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Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene 从携带PHOX2B基因不同多丙氨酸扩增突变的5例先天性中枢性低通气综合征患者中产生iPSC系(UMILi032-A、UMILi033-A、UMILi034-A、UMILi035-A、UMILi036-A
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-15 DOI: 10.1016/j.scr.2025.103888
Ana Lucia Cuadros Gamboa , Filippo Chiesa , Paride Pelucchi , Martina Bertocchi , Anna Ripepi , Eleonora Piscitelli , Marta Peruzzi , Niccolò Nassi , Cinzia Arzilli , Monica Annunziata , Amelia Morrone , Viviana Tritto , Paola Riva , Giuseppe Santamaria , Isabella Ceccherini , Roberta Benfante , Simona Di Lascio , Diego Fornasari
{"title":"Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene","authors":"Ana Lucia Cuadros Gamboa ,&nbsp;Filippo Chiesa ,&nbsp;Paride Pelucchi ,&nbsp;Martina Bertocchi ,&nbsp;Anna Ripepi ,&nbsp;Eleonora Piscitelli ,&nbsp;Marta Peruzzi ,&nbsp;Niccolò Nassi ,&nbsp;Cinzia Arzilli ,&nbsp;Monica Annunziata ,&nbsp;Amelia Morrone ,&nbsp;Viviana Tritto ,&nbsp;Paola Riva ,&nbsp;Giuseppe Santamaria ,&nbsp;Isabella Ceccherini ,&nbsp;Roberta Benfante ,&nbsp;Simona Di Lascio ,&nbsp;Diego Fornasari","doi":"10.1016/j.scr.2025.103888","DOIUrl":"10.1016/j.scr.2025.103888","url":null,"abstract":"<div><div>Congenital Central Hypoventilation Syndrome (CCHS) is a rare, life-threatening genetic disorder of the autonomic nervous system characterized by alveolar hypoventilation and generalized dysautonomia. CCHS is caused by heterozygous <em>PHOX2B</em> mutations, predominantly polyalanine repeat expansion (95% of cases) and, less frequently, frameshift mutations (5%). To address the lack of disease models, we generated five human induced pluripotent stem cell (hiPSC) lines derived from patients carrying +5Ala, +6Ala and +11Ala expansion mutations. These hiPSC lines exhibited undifferentiated hPSC phenotype, pluripotency, normal karyotype, and retention of the pathogenic genotype, providing a reliable <em>in vitro</em> platform for elucidating CCHS molecular mechanisms and disease pathogenesis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103888"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145790918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Establishment and characterization of a human induced pluripotent stem cell line from a child with epilepsy 儿童癫痫患者人类诱导多能干细胞系的建立与表征。
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-30 DOI: 10.1016/j.scr.2025.103900
Wei Jiang , Chuanmei Chen , Hongwei Zhang , Shuxia Zhu
{"title":"Establishment and characterization of a human induced pluripotent stem cell line from a child with epilepsy","authors":"Wei Jiang ,&nbsp;Chuanmei Chen ,&nbsp;Hongwei Zhang ,&nbsp;Shuxia Zhu","doi":"10.1016/j.scr.2025.103900","DOIUrl":"10.1016/j.scr.2025.103900","url":null,"abstract":"<div><div>Epilepsy is a chronic neurological disorder characterized by recurrent seizures. The condition can develop at any age, with particularly high prevalence in infancy and old age. Here, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) obtained from a 5-year-old girl diagnosed with epilepsy carrying a heterozygous PCDH19 mutation (c.380C &gt; T; p.Pro127Leu). The established iPSC line exhibited a normal karyotype, expressed key pluripotency markers, and was confirmed to be free of episomal reprogramming vector integration. Moreover, the iPSCs demonstrated robust in vitro differentiation potential into cell types representative of all three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103900"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of a human embryonic stem cell line (SMUDHe010-A-3F) with Cas9 expression cassette integrated at the AAVS1 locus via CRISPR/Cas9-mediated homologous recombination 通过CRISPR/Cas9介导的同源重组在AAVS1位点整合Cas9表达盒的人胚胎干细胞系（SMUDHe010-A-3F）的产生
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-09 DOI: 10.1016/j.scr.2025.103882
Yangmeihui Wang , Wen Zheng , Biying Qiu , Qiuyu Chen , Tao Yang , Sijie Zhou , Jun Liu , Bin Yang
{"title":"Generation of a human embryonic stem cell line (SMUDHe010-A-3F) with Cas9 expression cassette integrated at the AAVS1 locus via CRISPR/Cas9-mediated homologous recombination","authors":"Yangmeihui Wang ,&nbsp;Wen Zheng ,&nbsp;Biying Qiu ,&nbsp;Qiuyu Chen ,&nbsp;Tao Yang ,&nbsp;Sijie Zhou ,&nbsp;Jun Liu ,&nbsp;Bin Yang","doi":"10.1016/j.scr.2025.103882","DOIUrl":"10.1016/j.scr.2025.103882","url":null,"abstract":"<div><div>Cas9, an RNA-guided nuclease, enables precise genome editing by recognizing sgRNA-complementary sequences and cleaving target DNA. In this study, we used CRISPR/Cas9-mediated homologous recombination to integrate a loxP-flanked STOP cassette-controlled Cas9 expression framework (LSL-Cas9) into the AAVS1 safe-harbor locus of human embryonic stem cells. The resulting cell line, SMUDHe010-A-3F, allows Cre-dependent activation of Cas9 but remains inactive in the absence of Cre recombinase. Karyotype and tri-lineage differentiation confirmed genomic stability and pluripotency. This line provides a valuable platform for organoid gene editing and studies of human development and disease.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103882"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145790932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of a PLIN2-GFP2-P2A-Puro human induced pluripotent stem cell line (SEUi001-A) via CRISPR/Cas9-mediated gene editing technology 通过CRISPR/ cas9介导的基因编辑技术生成PLIN2-GFP2-P2A-Puro人诱导多能干细胞系（SEUi001-A）
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-23 DOI: 10.1016/j.scr.2025.103896
Meng Fan , Meiyan Zhao , Wenjun Su , Zhantong Tang , Wenheng Sun , Tao Zhou , Pengyu Liu
{"title":"Generation of a PLIN2-GFP2-P2A-Puro human induced pluripotent stem cell line (SEUi001-A) via CRISPR/Cas9-mediated gene editing technology","authors":"Meng Fan ,&nbsp;Meiyan Zhao ,&nbsp;Wenjun Su ,&nbsp;Zhantong Tang ,&nbsp;Wenheng Sun ,&nbsp;Tao Zhou ,&nbsp;Pengyu Liu","doi":"10.1016/j.scr.2025.103896","DOIUrl":"10.1016/j.scr.2025.103896","url":null,"abstract":"<div><div>Perilipin 2 (PLIN2) dysregulation drives metabolic pathologies including non-alcoholic fatty liver disease (NAFLD). To enable real-time tracking of PLIN2 dynamics, we established a human induced pluripotent stem cell (hiPSC) line with endogenous GFP2 knock-in at the <em>PLIN2</em> locus via CRISPR/Cas9-mediated non-homologous end joining (NHEJ). This PLIN2-GFP2 reporter line demonstrated synchronous fluorescence and transcriptional expression validated by flow cytometry. Genomic integrity was confirmed by normal diploid karyotype (46, XY). Pluripotency markers (<em>POU5F1, SOX2, NANOG</em>) were stably expressed. Furthermore, the cells possessed the ability to differentiate into three germ layers.</div><div>As the first reported endogenous PLIN2 reporter in human stem cells, this model overcomes limitations of antibody-based detection and transgenic overexpression systems, preserving native regulatory mechanisms. The model provides a physiologically relevant platform for: (1) live monitoring of LD-mitochondria interactions, (2) high-throughput compound screening for metabolic disorders, and (3) modeling NAFLD pathogenesis in vitro, advancing precision therapeutics and mechanistic disease modeling.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103896"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of 5 hiPSC lines from pediatric patients with Heritable pulmonary arterial hypertension (HPAH) caused by heterozygous mutations in the TBX4 gene 由TBX4基因杂合突变引起的遗传性肺动脉高压（HPAH）患儿的5个hiPSC系的产生
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-11 DOI: 10.1016/j.scr.2025.103886
Valeria Fernandez Vallone , Kristin Fischer , Judit Küchler , Franziska Diekmann , Georg Hansmann , Harald Stachelscheid
{"title":"Generation of 5 hiPSC lines from pediatric patients with Heritable pulmonary arterial hypertension (HPAH) caused by heterozygous mutations in the TBX4 gene","authors":"Valeria Fernandez Vallone ,&nbsp;Kristin Fischer ,&nbsp;Judit Küchler ,&nbsp;Franziska Diekmann ,&nbsp;Georg Hansmann ,&nbsp;Harald Stachelscheid","doi":"10.1016/j.scr.2025.103886","DOIUrl":"10.1016/j.scr.2025.103886","url":null,"abstract":"<div><div>Heritable pulmonary arterial hypertension (HPAH) and underlying pulmonary vascular disease (PVD) are often caused by TBX4 mutations—either loss- or gain-of-function—which are a leading cause of childhood-onset PAH. The clinically heterogeneous TBX4 syndrome can include skeletal anomalies (e.g., small patella syndrome) and developmental lung disease (DEVLD) (<span><span>Galambos, 2019</span></span>). TBX4 is expressed in lung mesenchymal cells such as matrix fibroblasts, pericytes, and smooth muscle cells, all contributing to PAH pathogenesis (<span><span>Karolak, 2023</span></span>, <span><span>Maldonado, 2025</span></span>). Our five patient-derived TBX4-mutant hiPSC lines provide a powerful model to investigate cell-specific mechanisms in HPAH/DEVLD-PH and support precision drug discovery and therapy development targeting TBX4-related abnormalities.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103886"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145775779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation and characterization of two human induced pluripotent stem cell lines from young and older male donors 两种来自年轻和老年男性供体的人类诱导多能干细胞系的产生和特性。
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-12-01 Epub Date: 2025-11-29 DOI: 10.1016/j.scr.2025.103878
Dongli Yang , Jun Chen , Jerry H. Juratli , Andre Monteiro da Rocha , Allison Schley , Nadia R. Sutton
{"title":"Generation and characterization of two human induced pluripotent stem cell lines from young and older male donors","authors":"Dongli Yang ,&nbsp;Jun Chen ,&nbsp;Jerry H. Juratli ,&nbsp;Andre Monteiro da Rocha ,&nbsp;Allison Schley ,&nbsp;Nadia R. Sutton","doi":"10.1016/j.scr.2025.103878","DOIUrl":"10.1016/j.scr.2025.103878","url":null,"abstract":"<div><div>Advanced age is a significant risk factor for cardiovascular diseases. Previously, we reported two female human induced pluripotent stem cell (hiPSC) lines. Here, we report generation and characterization of two hiPSC lines from peripheral blood mononuclear cells (PBMCs) obtained from young (18-year-old) and older (80-year-old) male donors. The two male hiPSC lines express pluripotency markers, possess normal (46, XY) karyotypes, and have trilineage differentiation potential. Both lines genetically match their parental PBMCs. These lines provide a vital resource for regenerative medicine and development of human-specific models to understand aging-associated diseases and to investigate the epigenetic mechanisms that are involved.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103878"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145669920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Heterozygous GAT1 (GABA transporter 1) G307R variant-carrying iPSC line (FINi007-A) from a male SLC6A1 epileptic encephalopathy patient 来自男性SLC6A1癫痫性脑病患者的杂合GAT1 (GABA转运蛋白1)G307R变体携带iPSC系（FINi007-A）。
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-12-01 Epub Date: 2025-11-12 DOI: 10.1016/j.scr.2025.103868
Dmitry A. Ovchinnikov , Sharon Jong , Saul Mullen , Steve Petrou
{"title":"Heterozygous GAT1 (GABA transporter 1) G307R variant-carrying iPSC line (FINi007-A) from a male SLC6A1 epileptic encephalopathy patient","authors":"Dmitry A. Ovchinnikov ,&nbsp;Sharon Jong ,&nbsp;Saul Mullen ,&nbsp;Steve Petrou","doi":"10.1016/j.scr.2025.103868","DOIUrl":"10.1016/j.scr.2025.103868","url":null,"abstract":"<div><div>The human <em>SLC6A1</em> gene encodes a Na<sup>+</sup>- and Cl<sup>−</sup>-dependent GABA (gamma-aminobutyric acid) transporter protein, GAT1, thought to act as a key mediator of the presynaptic GABA reuptake by neurons and astrocytes. We generated and characterised an induced pluripotent stem cell (iPSC) line from the fibroblasts of a neurodevelopmental disorder-affected boy, carrying a disease-causing variant in GAT1 (G307R), likely affecting neurotransmitter membrane permeation and intracellular trafficking of the transporter. This iPSC line exhibits typical human iPSCs features, expression of pluripotency-associated marker genes, ability to give rise to cells representing three embryonic germ layers, and a normal karyotype. We expect this iPSC line to aid in the <em>in vitro</em> modelling of, and development of precision therapies for, debilitating neurodevelopmental conditions caused by the variants in the <em>SLC6A1</em> gene.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103868"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145542543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of a human iPSC line with EGFP knock-in at the ATRX locus for visualization of chromatin remodeler dynamics and nuclear condensate formation 在ATRX位点上敲入EGFP的人类iPSC系的生成，用于染色质重塑动力学和核凝析物形成的可视化。
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-12-01 Epub Date: 2025-10-17 DOI: 10.1016/j.scr.2025.103856
Ryo Tomooka , Hideyuki Okano , Jun Kohyama
{"title":"Generation of a human iPSC line with EGFP knock-in at the ATRX locus for visualization of chromatin remodeler dynamics and nuclear condensate formation","authors":"Ryo Tomooka ,&nbsp;Hideyuki Okano ,&nbsp;Jun Kohyama","doi":"10.1016/j.scr.2025.103856","DOIUrl":"10.1016/j.scr.2025.103856","url":null,"abstract":"<div><div>ATRX is a chromatin-remodelling protein associated with neurodevelopmental disorders and gliomas, forming distinct nuclear foci associated with chromatin organization and phase-separated nuclear compartments. To visualize ATRX dynamics in live cells, we generated a human iPS cell (hiPSC) line with EGFP knocked in at the ATRX N-terminus using CRISPR/Cas12a-mediated genome editing. The modified hiPSCs retained pluripotency, normal karyotype, and trilineage differentiation potential. EGFP-ATRX localized to discrete nuclear foci, consistent with the phase-separated condensates described for ATRX, enabling real-time visualization of its chromatin association. This reporter line offers a valuable tool for studying ATRX function during differentiation and chromatin architecture development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103856"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145422761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of a transgenic pluripotent stem cell line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R) 表达含有肾2血栓性微血管病变引起突变的MMACHC蛋白的转基因多能干细胞系的产生。
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-12-01 Epub Date: 2025-09-22 DOI: 10.1016/j.scr.2025.103843
Zhiqi Zhou , Xiao’e Zhang , Cuilan Hou , Ying Wu
{"title":"Generation of a transgenic pluripotent stem cell line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R)","authors":"Zhiqi Zhou ,&nbsp;Xiao’e Zhang ,&nbsp;Cuilan Hou ,&nbsp;Ying Wu","doi":"10.1016/j.scr.2025.103843","DOIUrl":"10.1016/j.scr.2025.103843","url":null,"abstract":"<div><div>Mutations in the MMACHC (metabolism of cobalamin associated C) gene are associated with cobalamin C disorder and have been reported in infants with renal thrombotic microangiopaopathy (TMA). The pathophysiology underlying these mutations and their role in causing endothelial damage remains elusive. We generated a transgenic pluripotent stem cell (iPSC) line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R). The iPSC exhibits a typical stem cell morphology, expresses pluripotency markers, and displays a normal karyotype. The iPSC line provides a valuable platform for exploring the pathogenesis of endothelial injury induced by metabolism-mediated TMA and for screening drugs to reduce endothelial damage.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103843"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145239624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Establishment of a human induced pluripotent stem cell line from a patient with familial hypercholesterolemia carrying a frameshift mutation in LDLR gene 从携带LDLR基因移码突变的家族性高胆固醇血症患者身上建立人诱导多能干细胞系
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-12-01 Epub Date: 2025-11-18 DOI: 10.1016/j.scr.2025.103874
Yongjuan Ruan , Xiaowei Li , Jianzeng Dong , Youjian Zhang
{"title":"Establishment of a human induced pluripotent stem cell line from a patient with familial hypercholesterolemia carrying a frameshift mutation in LDLR gene","authors":"Yongjuan Ruan ,&nbsp;Xiaowei Li ,&nbsp;Jianzeng Dong ,&nbsp;Youjian Zhang","doi":"10.1016/j.scr.2025.103874","DOIUrl":"10.1016/j.scr.2025.103874","url":null,"abstract":"<div><div>Familial hypercholesterolemia is an autosomal dominant genetic disorder that often leads to abnormally high cholesterol levels in the body, which is closely related to early-onset coronary heart disease. LDLR gene mutation is the most common cause of familial hypercholesterolemia. In this study, we established an induced pluripotent stem cell (iPSC) line from a familial hypercholesterolemia patient harboring the c.1883delT heterozygous mutation in LDLR gene using non-integrative Sendai virus. This cell line carried the LDLR frameshift mutation, expressed pluripotency markers, showed the normal karyotype (46XX) and maintained the ability to differentiate into the three germ layers in vitro.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103874"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145576331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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