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Developing iPSC models from phenylketonuria patients with varying PAH gene mutations 从不同PAH基因突变的苯丙酮尿患者中建立iPSC模型。
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-07 DOI: 10.1016/j.scr.2025.103885
Desi Veleva , Mohammad M. Chowdhury , Merve Ay , Andrew B.J. Prowse , Michael Nafisinia
{"title":"Developing iPSC models from phenylketonuria patients with varying PAH gene mutations","authors":"Desi Veleva ,&nbsp;Mohammad M. Chowdhury ,&nbsp;Merve Ay ,&nbsp;Andrew B.J. Prowse ,&nbsp;Michael Nafisinia","doi":"10.1016/j.scr.2025.103885","DOIUrl":"10.1016/j.scr.2025.103885","url":null,"abstract":"<div><div>Phenylketonuria (PKU), a common autosomal recessive metabolic disorder, arises from diverse pathogenic variants in the phenylalanine hydroxylase (PAH) gene, causing phenylalanine accumulation and neurological impairment. The vast spectrum of over 2,200 PAH variants and frequent compound heterozygosity complicate genotype-phenotype prediction, highlighting the need for deeper mechanistic insight. We generated human induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of four PKU patients with distinct PAH genotypes using non-integrating Sendai viruses. The iPSC lines were validated for pluripotency, vector clearance, and genomic integrity. These patient-specific iPSCs provide a valuable platform for elucidating PKU pathophysiology and advancing personalized therapeutic development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103885"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145715784","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 an induced pluripotent stem cell line (SSMCi002-A) from a pediatric dilated cardiomyopathy patient carrying heterozygous mutation in the TTN gene 携带TTN基因杂合突变的儿童扩张型心肌病患者诱导多能干细胞系（SSMCi002-A）的产生
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-19 DOI: 10.1016/j.scr.2025.103893
Ning Zhang , Yuanxi Wang , Jian Hou , Yuling Zhang , Yongli Shan , Yanli Hu , Cheng Wang , Yan Long
{"title":"Generation of an induced pluripotent stem cell line (SSMCi002-A) from a pediatric dilated cardiomyopathy patient carrying heterozygous mutation in the TTN gene","authors":"Ning Zhang ,&nbsp;Yuanxi Wang ,&nbsp;Jian Hou ,&nbsp;Yuling Zhang ,&nbsp;Yongli Shan ,&nbsp;Yanli Hu ,&nbsp;Cheng Wang ,&nbsp;Yan Long","doi":"10.1016/j.scr.2025.103893","DOIUrl":"10.1016/j.scr.2025.103893","url":null,"abstract":"<div><div>Dilated cardiomyopathy (DCM), a leading cause of sudden cardiac death and heart failure, represents one of the most common cardiomyopathies in pediatric patients. In this study, we established a pluripotent stem cell (iPSC) line derived from a pediatric DCM patient harboring a heterozygous missense mutation in the TTN (titin) gene and homozygous nonsense mutations in both the PRR32 and RBMXL3 genes. Reprogramming was performed using a non-integrating episomal vector system. The generated iPSC line exhibited characteristic pluripotent morphology, maintained a normal male karyotype, expressed key pluripotency markers, and demonstrated robust trilineage differentiation potential<!--> <em>in vivo</em>.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103893"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913265","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 six human induced pluripotent stem cell lines from healthy Central Asian donors (IPBi115-A, IPBi116-A, IPBi117-A, IPBi119-A, IPBi124-A, and IPBi129-A) 从健康的中亚供体（IPBi115-A、IPBi116-A、IPBi117-A、IPBi119-A、IPBi124-A和IPBi129-A）建立6个人类诱导多能干细胞系。
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-17 DOI: 10.1016/j.scr.2025.103891
Miju Lee , Yoon-Eun Kim , Wonjue Choi , Songeun Nah , Mira Han , Chan Yeong Heo , Mahito Nakanishi , Jihwan Song
{"title":"Establishment of six human induced pluripotent stem cell lines from healthy Central Asian donors (IPBi115-A, IPBi116-A, IPBi117-A, IPBi119-A, IPBi124-A, and IPBi129-A)","authors":"Miju Lee ,&nbsp;Yoon-Eun Kim ,&nbsp;Wonjue Choi ,&nbsp;Songeun Nah ,&nbsp;Mira Han ,&nbsp;Chan Yeong Heo ,&nbsp;Mahito Nakanishi ,&nbsp;Jihwan Song","doi":"10.1016/j.scr.2025.103891","DOIUrl":"10.1016/j.scr.2025.103891","url":null,"abstract":"<div><div>Six human induced pluripotent stem cell (iPSC) lines (IPBi115-A, IPBi116-A, IPBi117-A, IPBi119-A, IPBi124-A, and IPBi129-A) were established from peripheral blood mononuclear cells (PBMCs) of healthy donors from Kazakhstan and Uzbekistan, representing Central Asian populations. These lines retained pluripotency, differentiated into the three germ layers, and showed normal karyotypes, with confirmed Sendai virus clearance, donor-matched STR profiles, and mycoplasma-free status. These iPSC resources expand population diversity for stem cell research and provide valuable platforms for disease modeling and drug screening, supporting human-based approaches in biomedical research.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103891"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913209","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
Knock-out of specific DMD gene isoforms in the parental hESC line SA001 using CRISPR/Cas9 使用CRISPR/Cas9敲除亲本hESC细胞系SA001中特定的DMD基因亚型。
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-26 DOI: 10.1016/j.scr.2025.103899
Laure Chatrousse , Thifaine Poullion , Hamel Mahiou , Lina El-Kassar , Karine Giraud-Triboult , Claire Boissart , Alexandra Benchoua
{"title":"Knock-out of specific DMD gene isoforms in the parental hESC line SA001 using CRISPR/Cas9","authors":"Laure Chatrousse ,&nbsp;Thifaine Poullion ,&nbsp;Hamel Mahiou ,&nbsp;Lina El-Kassar ,&nbsp;Karine Giraud-Triboult ,&nbsp;Claire Boissart ,&nbsp;Alexandra Benchoua","doi":"10.1016/j.scr.2025.103899","DOIUrl":"10.1016/j.scr.2025.103899","url":null,"abstract":"<div><div>The DMD gene, which encodes the protein dystrophin, is involved in a group of diseases known as dystrophinopathies, which includes Duchenne Muscular Dystrophy (DMD). DMD is a progressive and lethal muscular disorder mainly affecting boys that results from the loss of function of the longer dystrophin isoform DP427 in skeletal muscles. Dystrophinopathies are also associated with poorly understood neurocognitive and neurodevelopmental disorders. To investigate the role of dystrophin isoforms in neural development, we specifically disrupted three dystrophin isoforms expressed in the brain, namely DP427, DP140 and DP71, in the male human embryonic stem cell line SA001 using the CRISPR/Cas9 system. (100 / 100 words)</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103899"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913210","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 RB1 knockout human embryonic stem cell lines derived from H9 using CRISPR/Cas9 利用CRISPR/Cas9从H9衍生的RB1基因敲除的人胚胎干细胞系
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-26 DOI: 10.1016/j.scr.2025.103897
Jinyi Wang , Yimeng Gao , Kangxin Jin , Zi-Bing Jin , Jia Xu
{"title":"Generation of RB1 knockout human embryonic stem cell lines derived from H9 using CRISPR/Cas9","authors":"Jinyi Wang ,&nbsp;Yimeng Gao ,&nbsp;Kangxin Jin ,&nbsp;Zi-Bing Jin ,&nbsp;Jia Xu","doi":"10.1016/j.scr.2025.103897","DOIUrl":"10.1016/j.scr.2025.103897","url":null,"abstract":"<div><div>RB1 is a tumor suppressor gene which plays a crucial role in cell cycle and cellular differentiation. Mutations or loss of RB1 are associated with retinoblastoma and a variety of other cancers. We generated RB1 knockout human embryonic stem cell (hESC) lines (H9) using CRISPR/Cas9-mediated gene targeting. These RB1-deficient cell lines maintain typical stem cell morphology, normal karyotype and expression of pluripotent marker genes. Furthermore, they retain their in vivo differentiation capacity, enabling the generation of multiple cell lineages. These RB1 knockout hESC lines provide valuable models for investigating the role of RB1 in tumorigenesis, neurodevelopment, and cell cycle regulation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103897"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913259","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 induced pluripotent stem cell line IRDWCHi001-A from a patient with hearing loss and nystagmus carrying the heterozygous TBX2 c.977delA (p.D326Afs*42) mutation 携带杂合TBX2 c.977delA （p.D326Afs*42）突变的听力损失和眼球震颤患者诱导多能干细胞株IRDWCHi001-A的生成
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2026-01-06 DOI: 10.1016/j.scr.2026.103906
Wan Hua , Libo Liu , Lanchen Wang , Wenyu Xiong, Huijun Yuan, Jing Cheng
{"title":"Generation of induced pluripotent stem cell line IRDWCHi001-A from a patient with hearing loss and nystagmus carrying the heterozygous TBX2 c.977delA (p.D326Afs*42) mutation","authors":"Wan Hua ,&nbsp;Libo Liu ,&nbsp;Lanchen Wang ,&nbsp;Wenyu Xiong,&nbsp;Huijun Yuan,&nbsp;Jing Cheng","doi":"10.1016/j.scr.2026.103906","DOIUrl":"10.1016/j.scr.2026.103906","url":null,"abstract":"<div><div>Heterozygous <em>TBX2</em> mutations cause a novel syndrome with hearing loss and incomplete nystagmus, while its pathogenic mechanism remains unclear. Here, we established the iPSC line IRDWCHi001-A from peripheral blood mononuclear cells of a patient carrying <em>TBX2</em> c.977delA (p.D326Afs*42) via Sendai virus reprogramming. The generated iPSC line showed typical stem cell morphology, pluripotency marker expression, normal karyotype, and trilineage differentiation potential. It provides a valuable resource for modeling <em>TBX2</em>-associated hearing loss and investigating its underlying mechanisms.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103906"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145925348","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 induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T) 从CHD7突变（c.3982C>T）的CHARGE综合征患者中产生人诱导多能干细胞系
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-11-21 DOI: 10.1016/j.scr.2025.103876
Yunqian Zhu , Peng Zhang , Meiling Zhang , Yuan Xu , Wenhao Zhou , Guoqiang Cheng , Man Xiong
{"title":"Generation of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T)","authors":"Yunqian Zhu ,&nbsp;Peng Zhang ,&nbsp;Meiling Zhang ,&nbsp;Yuan Xu ,&nbsp;Wenhao Zhou ,&nbsp;Guoqiang Cheng ,&nbsp;Man Xiong","doi":"10.1016/j.scr.2025.103876","DOIUrl":"10.1016/j.scr.2025.103876","url":null,"abstract":"<div><div>CHARGE syndrome is a multisystem neurodevelopmental disorder characterized by coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities. The <em>CHD7</em> gene is the causal gene. A human iPSC line harboring a <em>de novo</em> heterozygous <em>CHD7</em> mutation (c.3982C&gt;T) was generated from peripheral blood mononuclear cells of a patient with CHARGE syndrome. This iPSC line exhibited typical human embryonic stem cell-like morphology, pluripotent markers, normal karyotype, and could differentiate into the three germ layers. This iPSC line is valuable for studying disease mechanisms and conducting drug screening in patient with CHARGE syndrome.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103876"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145658701","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 a human-derived iPSC line (HZSMHCi003-A) from a male child with fragile X syndrome 来自脆性X综合征男童的人类衍生iPSC系（HZSMHCi003-A）的生成和表征
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-11-29 DOI: 10.1016/j.scr.2025.103880
Xiaoyi Tian , Xiaoying Zhang , Chuqing Zhou , Youhui Jiang , Xinyi Ren , Tao Li , Peiyan Ni
{"title":"Generation and characterization of a human-derived iPSC line (HZSMHCi003-A) from a male child with fragile X syndrome","authors":"Xiaoyi Tian ,&nbsp;Xiaoying Zhang ,&nbsp;Chuqing Zhou ,&nbsp;Youhui Jiang ,&nbsp;Xinyi Ren ,&nbsp;Tao Li ,&nbsp;Peiyan Ni","doi":"10.1016/j.scr.2025.103880","DOIUrl":"10.1016/j.scr.2025.103880","url":null,"abstract":"<div><div>This study reports the successful establishment of induced pluripotent stem cells (iPSCs) derived from a pediatric patient with Fragile X Syndrome (FXS), representing a valuable cellular model for studying the most prevalent hereditary form of intellectual disability. Blood samples were collected from an 8-year-old Han Chinese male presenting with intellectual disability and carrying a full FMR1 gene mutation (&gt;200 CGG repeat expansion). A stable iPSC line designated HZSMHCi003-A was generated using episomal vector-mediated reprogramming with seven transcription factors (OCT4, SOX2, NANOG, LIN28, c-MYC, KLF4, and SV40LT). Comprehensive characterization confirmed normal chromosomal integrity, robust expression of pluripotency-associated markers, and tri-lineage differentiation potential as evidenced by teratoma formation assays. This FXS patient-derived iPSC line provides a unique platform for investigating neurodevelopmental pathophysiology and screening potential therapeutic interventions for intellectual disability associated with FMR1 dysfunction.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103880"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738587","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 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
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