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Establishment of a homozygous LMNA knock-out human induced pluripotent stem cell line using CRISPR/Cas9 system 利用CRISPR/Cas9系统建立纯合子敲除LMNA的人诱导多能干细胞系
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-21 DOI: 10.1016/j.scr.2025.103779
So Hee Park , David Suh , Hyoeun Kim , Ru-Ri Lee , Isabella Leite Coscarella , Jaewon Oh , Sangwoo Kim , Hyoung-Pyo Kim , Chulan Kwon , Chan Joo Lee , Sahng Wook Park , Seunghyun Lee
{"title":"Establishment of a homozygous LMNA knock-out human induced pluripotent stem cell line using CRISPR/Cas9 system","authors":"So Hee Park ,&nbsp;David Suh ,&nbsp;Hyoeun Kim ,&nbsp;Ru-Ri Lee ,&nbsp;Isabella Leite Coscarella ,&nbsp;Jaewon Oh ,&nbsp;Sangwoo Kim ,&nbsp;Hyoung-Pyo Kim ,&nbsp;Chulan Kwon ,&nbsp;Chan Joo Lee ,&nbsp;Sahng Wook Park ,&nbsp;Seunghyun Lee","doi":"10.1016/j.scr.2025.103779","DOIUrl":"10.1016/j.scr.2025.103779","url":null,"abstract":"<div><div>The <em>LMNA</em> gene encodes lamin A/C, essential components of the nuclear envelope that play crucial roles in maintaining nuclear architecture, mechanotransduction, and gene regulation. <em>LMNA</em> mutations are linked to laminopathies, affecting multiple organ systems, including muscle, adipose tissue, and the cardiovascular system. To investigate <em>LMNA</em>-related disorders, we generated a human-induced pluripotent stem cell (hiPSC) line with a homozygous <em>LMNA</em> frameshift mutation (c.351_352insA) using CRISPR/Cas9 genome editing. The edited hiPSCs retained normal colony morphology and expressed key pluripotency markers. This <em>LMNA</em> knockout hiPSC line provides a valuable model for studying lamin A/C functions in nuclear integrity, cellular homeostasis, and disease pathogenesis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103779"},"PeriodicalIF":0.8,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144687071","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 two isogenic-corrected control cell lines (IRMBi001-A-1; IRMBi001-A-2) from Autosomal dominant Alzheimer’s disease patient-derived iPSCs carrying a G217D mutation in presenilin 1 gene 两个等基因校正对照细胞系(IRMBi001-A-1；IRMBi001-A-2)来自常染色体显性阿尔茨海默病患者来源的iPSCs，携带早老素1基因G217D突变
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-19 DOI: 10.1016/j.scr.2025.103780
Coralie Clua Provost , Louise Greetham , Cécile Monzo , Arnaud Monteil , Anne Rovelet-Lecrux , Sylvain Lehmann , David Wallon , Valentin Garcia , Hélène Hirbec , Emmanuel Nivet , Carole Crozet
{"title":"Generation of two isogenic-corrected control cell lines (IRMBi001-A-1; IRMBi001-A-2) from Autosomal dominant Alzheimer’s disease patient-derived iPSCs carrying a G217D mutation in presenilin 1 gene","authors":"Coralie Clua Provost ,&nbsp;Louise Greetham ,&nbsp;Cécile Monzo ,&nbsp;Arnaud Monteil ,&nbsp;Anne Rovelet-Lecrux ,&nbsp;Sylvain Lehmann ,&nbsp;David Wallon ,&nbsp;Valentin Garcia ,&nbsp;Hélène Hirbec ,&nbsp;Emmanuel Nivet ,&nbsp;Carole Crozet","doi":"10.1016/j.scr.2025.103780","DOIUrl":"10.1016/j.scr.2025.103780","url":null,"abstract":"<div><div>Mutations in the <em>preselinin</em>1 (PSEN1) gene are responsible for rare autosomic dominant Alzheimer’s disease (ADAD). We generated isogenic control cell lines from iPS cell line derived from ADAD patient carrying a G217D mutation in PSEN1 gene, with CRISPR Cas9 technology. The edited cell lines present the correction of the c.650G &gt; A mutation, no chromosomal abnormalities and no evidence of off-target event. The IRMBi001-A-1 and IRMBi001-A-2 cell lines exhibit pluripotency markers expression and the ability to differentiate into the three germ layers. These two isogenic controls will be used as control to study the pathomechanistic of ADAD through various <em>in vitro</em> assays.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103780"},"PeriodicalIF":0.8,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144679129","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
CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines CRISPR/ cas9介导的两个等基因cep290突变iPSC系的生成
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-19 DOI: 10.1016/j.scr.2025.103781
Joana Figueiro-Silva , Melanie Eschment , Michelle Mennel , Affef Abidi , Beatrice Oneda , Anita Rauch , Ruxandra Bachmann-Gagescu
{"title":"CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines","authors":"Joana Figueiro-Silva ,&nbsp;Melanie Eschment ,&nbsp;Michelle Mennel ,&nbsp;Affef Abidi ,&nbsp;Beatrice Oneda ,&nbsp;Anita Rauch ,&nbsp;Ruxandra Bachmann-Gagescu","doi":"10.1016/j.scr.2025.103781","DOIUrl":"10.1016/j.scr.2025.103781","url":null,"abstract":"<div><div><em>CEP290</em> is an important human disease gene, as mutations are implicated in a broad spectrum of autosomal recessive ciliopathies, including Leber congenital amaurosis and Joubert, Meckel, Senior-LØken or Bardet Biedl syndromes. To create isogenic mutant human induced pluripotent stem cell (hiPSC) lines for disease modeling, we employed CRISPR/Cas9 to introduce disease-relevant mutations into the control hiPSC line HMGU1 (ISFi001-A). Thorough characterization of the lines, including the effect of the mutation at the mRNA and protein level, shows that these <em>CEP290</em>-mutant lines provide a useful resource for studying ciliopathy disease mechanisms and cilia biology through differentiation into diverse cell types and organoids.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103781"},"PeriodicalIF":0.8,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144687072","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 reporter line to investigate cell division and proliferation 人诱导多能干细胞报告系的生成，用于研究细胞分裂和增殖
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-16 DOI: 10.1016/j.scr.2025.103776
Alessia Costa , Ayse Boese , Elisa Mohr , Carla Borisch , Hannah Jill Hunkler , Jeannine Hoepfner , Shambhabi Chatterjee , Thomas Thum , Christian Bär
{"title":"Generation of a human induced pluripotent stem cell reporter line to investigate cell division and proliferation","authors":"Alessia Costa ,&nbsp;Ayse Boese ,&nbsp;Elisa Mohr ,&nbsp;Carla Borisch ,&nbsp;Hannah Jill Hunkler ,&nbsp;Jeannine Hoepfner ,&nbsp;Shambhabi Chatterjee ,&nbsp;Thomas Thum ,&nbsp;Christian Bär","doi":"10.1016/j.scr.2025.103776","DOIUrl":"10.1016/j.scr.2025.103776","url":null,"abstract":"<div><div>Understanding cell division in disease contexts is of paramount importance for elucidating disease mechanisms and developing regenerative therapies, such as cardiac regeneration. Nevertheless, tools for identifying and to studying key factors in regenerative processes in human cells remain scarce. Here, we generated a human induced pluripotent stem cell (hiPSC) reporter line expressing a cell cycle-regulated cyclinB1-eGFP construct that enables live tracking of proliferating human cells. The reporter hiPSC line successfully differentiated into cardiomyocytes (CMs), endothelial cells (ECs), and fibroblasts (FBs), with eGFP<sup>+</sup> cells identifying actively dividing populations across lineages. Each cell type exhibited appropriate lineage-specific marker expression and high differentiation efficiency. Importantly, the cyclinB1-eGFP system allowed real-time identification and tracking of proliferating (eGFP<sup>+</sup>) cells within these differentiated populations. This tool provides an innovative platform for screening potential pro-proliferative compounds, facilitating the discovery of novel therapies to stimulate or inhibit cell division.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103776"},"PeriodicalIF":0.8,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144678868","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 (NRIFPi001-A) derived from a patient with phenylketonuria (PKU) harboring compound heterozygous variant (c.1199 + 502A＞T and c.728G＞A) in PAH gene 从苯丙酮尿症（PKU）患者获得PAH基因复合杂合变异（c.1199 + 502A>T和c.728G> a）的人诱导多能干细胞系（NRIFPi001-A）的产生
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-15 DOI: 10.1016/j.scr.2025.103778
Yu Wang , Lisha An , Huimin Gao , Chuan Zhang , Lin Wang , Yanping Zhang , Lu Zhang , Yousheng Yan , Xiaohua Jin , Xu Ma
{"title":"Generation of a human induced pluripotent stem cell line (NRIFPi001-A) derived from a patient with phenylketonuria (PKU) harboring compound heterozygous variant (c.1199 + 502A＞T and c.728G＞A) in PAH gene","authors":"Yu Wang ,&nbsp;Lisha An ,&nbsp;Huimin Gao ,&nbsp;Chuan Zhang ,&nbsp;Lin Wang ,&nbsp;Yanping Zhang ,&nbsp;Lu Zhang ,&nbsp;Yousheng Yan ,&nbsp;Xiaohua Jin ,&nbsp;Xu Ma","doi":"10.1016/j.scr.2025.103778","DOIUrl":"10.1016/j.scr.2025.103778","url":null,"abstract":"<div><div>Pathogenic variants in the phenylalanine hydroxylase (<em>PAH</em>) gene cause phenylketonuria (PKU), a disorder characterized by neurotoxicity and impaired postnatal cognitive development. In this study, we generated a human-induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a patient with classical PKU carrying a compound heterozygous variant with deep intronic mutation in c.1199 + 502A＞T and c.728G＞A. The resulting iPSCs displayed pluripotency and trilineage differentiation potential. This iPSC line may serve as a valuable model for investigating the underlying mechanism of PKU.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103778"},"PeriodicalIF":0.8,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144697005","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 iPSC line from congenital hypopituitarism patient with a nonsense heterozygous variant in FOXA2 FOXA2无义杂合变异的先天性垂体功能低下患者的iPSC系的产生
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-15 DOI: 10.1016/j.scr.2025.103777
Camilletti Maria Andrea , Chirino Felker Gonzalo Tomás , Castañeda Sheila , Zabalegui Federico , Amin Guadalupe , Belgorosky Alicia , Ciaccio Marta , Di Palma Maria Isabel , Vaiani Elisa , Waisman Ariel , Miriuka Santiago , Pérez Millán María Inés , Moro Lucia Natalia
{"title":"Generation of an iPSC line from congenital hypopituitarism patient with a nonsense heterozygous variant in FOXA2","authors":"Camilletti Maria Andrea ,&nbsp;Chirino Felker Gonzalo Tomás ,&nbsp;Castañeda Sheila ,&nbsp;Zabalegui Federico ,&nbsp;Amin Guadalupe ,&nbsp;Belgorosky Alicia ,&nbsp;Ciaccio Marta ,&nbsp;Di Palma Maria Isabel ,&nbsp;Vaiani Elisa ,&nbsp;Waisman Ariel ,&nbsp;Miriuka Santiago ,&nbsp;Pérez Millán María Inés ,&nbsp;Moro Lucia Natalia","doi":"10.1016/j.scr.2025.103777","DOIUrl":"10.1016/j.scr.2025.103777","url":null,"abstract":"<div><div>Forkhead box A2 (FOXA2<em>)</em> is a pioneer transcription factor, necessary for human development. Mutations in <em>FOXA2</em> were recently associated with congenital hypopituitarism (CH); however, the pathogenic mechanism remains unknown. Induced pluripotent stem cells from a patient with CH carrying a heterozygous <em>FOXA2</em> variant (c.686C &gt; A; p.S229*) were obtained by cellular reprogramming from the patient’s peripheral blood mononuclear cells. The generated iPSCs exhibited all hallmarks of pluripotency, differentiated into the three germ layers, and presented a normal karyotype. This resource represents a valuable tool for investigating the role of FOXA2 in pituitary development and associated disorders.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103777"},"PeriodicalIF":0.8,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655811","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
Human induced pluripotent stem cells derived from peripheral blood mononuclear cells of a retinoblastoma patient 从视网膜母细胞瘤患者外周血单个核细胞中提取的人诱导多能干细胞
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-11 DOI: 10.1016/j.scr.2025.103772
Xiaoqiong Xiang, Xunda Ji
{"title":"Human induced pluripotent stem cells derived from peripheral blood mononuclear cells of a retinoblastoma patient","authors":"Xiaoqiong Xiang,&nbsp;Xunda Ji","doi":"10.1016/j.scr.2025.103772","DOIUrl":"10.1016/j.scr.2025.103772","url":null,"abstract":"<div><div>Retinoblastoma (RB) is a prevalent intraocular malignancy primarily attributed to variations in the tumor suppressor gene RB1. In this study, we successfully derived a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells obtained from an infant with heritable RB. The generated iPSCs exhibit expression of key pluripotency markers and are free from mycoplasma contamination. Additionally, they possess a normal male karyotype and demonstrate the ability to differentiate into all three germ layers in vitro.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103772"},"PeriodicalIF":0.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144702152","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 new human iPSC cell line (UOMi010-A) from a patient with hypophosphatasia 从低磷酸症患者身上培育出新的人类iPSC细胞系（UOMi010-A）
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-11 DOI: 10.1016/j.scr.2025.103775
Abhay Srivastava , Dylan Walker , Jason Uzonna , Cheryl Rockman-Greenberg , Sanjiv Dhingra
{"title":"Generation of a new human iPSC cell line (UOMi010-A) from a patient with hypophosphatasia","authors":"Abhay Srivastava ,&nbsp;Dylan Walker ,&nbsp;Jason Uzonna ,&nbsp;Cheryl Rockman-Greenberg ,&nbsp;Sanjiv Dhingra","doi":"10.1016/j.scr.2025.103775","DOIUrl":"10.1016/j.scr.2025.103775","url":null,"abstract":"<div><div>Hypophosphatasia (HPP) is characterized by loss of function variants in the alkaline phosphatase (<em>ALPL</em>) gene that leads to impaired mineralization in bones and teeth. It is a rare inherited metabolic disorder which has prenatal, perinatal, juvenile, and adult-onset clinical presentations. In order to delineate molecular mechanisms underlying HPP and to screen new potential effective drug therapies, we have generated a patient specific iPSC cell line (UOMi010-A) from the patient’s peripheral blood mononuclear cells (PBMCs). The patient is 62 yr. old female with a heterozygous pathogenic variant in the <em>ALPL</em> gene at c.551G &gt; A (p.Arg184Gln).</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103775"},"PeriodicalIF":0.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611683","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 from a Wilson’s disease patient carrying both c.2333G > T and c.2621C > T mutations 从携带c.2333G > T和c.2621C > T突变的威尔逊氏病患者身上产生的诱导多能干细胞系
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-11 DOI: 10.1016/j.scr.2025.103773
Danni Zhou , Jun Su , Jue Wang , Hao Wang , Lin Zhang , Fengquan Zhou , Lin Zhou , Shusen Zheng , Tingyu Gong , Ping Liang
{"title":"Generation of an induced pluripotent stem cell line from a Wilson’s disease patient carrying both c.2333G > T and c.2621C > T mutations","authors":"Danni Zhou ,&nbsp;Jun Su ,&nbsp;Jue Wang ,&nbsp;Hao Wang ,&nbsp;Lin Zhang ,&nbsp;Fengquan Zhou ,&nbsp;Lin Zhou ,&nbsp;Shusen Zheng ,&nbsp;Tingyu Gong ,&nbsp;Ping Liang","doi":"10.1016/j.scr.2025.103773","DOIUrl":"10.1016/j.scr.2025.103773","url":null,"abstract":"<div><div>Wilson’s disease (WD) is an autosomal recessive genetic disorder caused by the mutation of <em>ATP7B</em> gene encoding ATP7B protein (copper ion transporter ATPase β peptide). Functional impairments of ATP7B protein cause<!--> <!-->copper transport disorders in liver cells, eventually resulting in abnormal accumulation of copper<!--> <!-->and pathological manifestations. In this study, human renal epithelial cells obtained from a patient with WD were reprogrammed by a non-integrated Sendai virus to generate a patient-specific induced pluripotent stem cell (iPSC) line.<!--> <!-->The iPSC line expressed pluripotency markers, showed normal karyotype and morphology, and was capable to differentiate into three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103773"},"PeriodicalIF":0.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611684","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
Reprogramming of peripheral blood mononuclear cells from a patient with hypophosphatasia to generate iPSC line (UOMi011-A) 低磷血症患者外周血单个核细胞重编程生成iPSC细胞系（UOMi011-A）
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-11 DOI: 10.1016/j.scr.2025.103774
Abhay Srivastava , Niketa Sareen , Cheryl Rockman-Greenberg , Sanjiv Dhingra
{"title":"Reprogramming of peripheral blood mononuclear cells from a patient with hypophosphatasia to generate iPSC line (UOMi011-A)","authors":"Abhay Srivastava ,&nbsp;Niketa Sareen ,&nbsp;Cheryl Rockman-Greenberg ,&nbsp;Sanjiv Dhingra","doi":"10.1016/j.scr.2025.103774","DOIUrl":"10.1016/j.scr.2025.103774","url":null,"abstract":"<div><div>Hypophosphatasia (HPP) is a rare inherited metabolic disorder predominantly affecting bones and teeth. HPP can manifest throughout the life cycle from in utero, to perinatal and infantile (before 6 months of age) presentations, to onset in childhood through adulthood. We report a new cell line (UOMi011-A) generated from a 7 yr. old female with perinatal HPP. The patient exhibits homozygous c.1001G &gt; A (p.Gly334Asp) mutation in the <em>ALPL</em> gene. This cell line will be used for studying the molecular, cellular and developmental mechanisms in context to the mutation and disorder. It will also be used to screen potential therapeutic avenues.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103774"},"PeriodicalIF":0.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611685","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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