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Generation of pluripotent stem cell line (IPWi001-A) and a corresponding CRISPR/Cas9 modified isogenic rescue control (IPWi001-A-1) from a patient with arrhythmia-induced cardiomyopathy harboring a KCNQ1 truncating mutation 从携带KCNQ1截断突变的心律失常性心肌病患者身上产生多能干细胞系（IPWi001-A）和相应的CRISPR/Cas9修饰的等基因拯救对照(IPWi001-A-1
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-04-01 Epub Date: 2026-02-03 DOI: 10.1016/j.scr.2026.103921
Meike Anders , Stefanie Hoppe , Hanna Eberl , Sabine Rebs , Aylin Seedorf , Wiebke Maurer , Tillmann Schill , Arne Zibat , Julia K. Unsöld , Gökhan Yigit , Bernd Wollnik , Dirk Vollmann , Samuel Sossalla , Katrin Streckfuss-Bömeke
{"title":"Generation of pluripotent stem cell line (IPWi001-A) and a corresponding CRISPR/Cas9 modified isogenic rescue control (IPWi001-A-1) from a patient with arrhythmia-induced cardiomyopathy harboring a KCNQ1 truncating mutation","authors":"Meike Anders ,&nbsp;Stefanie Hoppe ,&nbsp;Hanna Eberl ,&nbsp;Sabine Rebs ,&nbsp;Aylin Seedorf ,&nbsp;Wiebke Maurer ,&nbsp;Tillmann Schill ,&nbsp;Arne Zibat ,&nbsp;Julia K. Unsöld ,&nbsp;Gökhan Yigit ,&nbsp;Bernd Wollnik ,&nbsp;Dirk Vollmann ,&nbsp;Samuel Sossalla ,&nbsp;Katrin Streckfuss-Bömeke","doi":"10.1016/j.scr.2026.103921","DOIUrl":"10.1016/j.scr.2026.103921","url":null,"abstract":"<div><div>KCNQ1 functions as a slow rectifying potassium channel during the repolarization of the cardiac action potential, with mutations causing long-QT syndrome 1 and arrhythmias. A genetic link between KCNQ1 mutations and arrhythmia-induced cardiomyopathy (AIC) has not been identified, and the underlying pathways remain elusive. We generated human induced pluripotent stem cells (hiPSCs) from an AIC patient harboring the heterozygous truncating mutation p.W15* in KCNQ1 and corrected the mutation to wildtype using CRISPR/Cas9. The hiPSCs retained full pluripotency, genomic integrity, and differentiation ability. They were differentiated into hiPSC-cardiomyocytes (hiPSC-CM), establishing a patient-specific model to explore potential genetic connections to AIC.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"92 ","pages":"Article 103921"},"PeriodicalIF":0.7,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146193162","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 induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying RBM20 mutations 两种携带RBM20突变的扩张型心肌病患者诱导多能干细胞系的产生
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-03-01 Epub Date: 2026-01-13 DOI: 10.1016/j.scr.2026.103911
Shuai Sun , Xiaochun Yang , Yang Zhou , Rebecca Yu , Parker Walther , Jeffrey Teuteberg , Victoria Parikh , Joseph C. Wu
{"title":"Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying RBM20 mutations","authors":"Shuai Sun ,&nbsp;Xiaochun Yang ,&nbsp;Yang Zhou ,&nbsp;Rebecca Yu ,&nbsp;Parker Walther ,&nbsp;Jeffrey Teuteberg ,&nbsp;Victoria Parikh ,&nbsp;Joseph C. Wu","doi":"10.1016/j.scr.2026.103911","DOIUrl":"10.1016/j.scr.2026.103911","url":null,"abstract":"<div><div>Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular enlargement and reduced contractile ability, which frequently leads to heart failure and arrhythmias. This condition is related to loss-of-function mutations in the RNA-binding motif protein 20 (<em>RBM20</em>), which disrupts target gene splicing. Two induced pluripotent stem cell (iPSC) lines, each harboring a single heterozygous <em>RBM20</em> mutation, were generated from DCM patients. Both cell lines retain normal karyotypes and exhibit robust undifferentiated iPSC state markers. They have the capability to differentiate into derivatives of three germ layers, which provides a significant in vitro tool for <em>RBM20</em>-related DCM and a valuable platform for therapeutic development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103911"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146030951","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, JHUi006-A, from a Marfan Syndrome patient harboring a pathogenic c.5225-2A > C intronic splicing variant 马凡氏综合征患者携带致病性C .5225- 2a > C内含子剪接变异的诱导多能干细胞系JHUi006-A的产生
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-03-01 Epub Date: 2026-01-26 DOI: 10.1016/j.scr.2026.103915
Franklyn D. Hall III , Christine Miller , Sharon Gerecht , Kenneth R. Boheler
{"title":"Generation of an induced pluripotent stem cell line, JHUi006-A, from a Marfan Syndrome patient harboring a pathogenic c.5225-2A > C intronic splicing variant","authors":"Franklyn D. Hall III ,&nbsp;Christine Miller ,&nbsp;Sharon Gerecht ,&nbsp;Kenneth R. Boheler","doi":"10.1016/j.scr.2026.103915","DOIUrl":"10.1016/j.scr.2026.103915","url":null,"abstract":"<div><div>Marfan Syndrome, a heritable connective tissue disorder caused by mutations within the fibrillin-1 (<em>FBN1</em>) gene, can have deleterious effects on heart and aorta, eyes, the skeletal system and bone. <em>FBN1</em> mutations that result in increased aortic vulnerability to rupture are associated with high mortality rates. Here, we describe an induced pluripotent stem cell line (JHUi006-A) generated from patient-derived human dermal fibroblasts harboring a heterozygous c.5225-2A &gt; C intronic splice acceptor site variant preceding Exon 43 of <em>FBN1</em> that results in exon skipping. The clonal line has a normal karyotype, expresses appropriate stemness markers, and maintains trilineage differentiation potential.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103915"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146114043","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
Corrigendum to “Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters”. [Stem. Cell Res. 82 (2025) 103645] “从视网膜色素变性25名患者和2名携带者但无症状的女儿中产生3种人类诱导多能干细胞系”的更正。[茎。细胞科学，82 (2025)103645 [j]。
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-03-01 Epub Date: 2026-02-03 DOI: 10.1016/j.scr.2026.103913
Helena Isla-Magrané , Maddalen Zufiaurre-Seijo , Miguel Ángel Zapata , Josep García-Arumí , Anna Duarri
{"title":"Corrigendum to “Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters”. [Stem. Cell Res. 82 (2025) 103645]","authors":"Helena Isla-Magrané ,&nbsp;Maddalen Zufiaurre-Seijo ,&nbsp;Miguel Ángel Zapata ,&nbsp;Josep García-Arumí ,&nbsp;Anna Duarri","doi":"10.1016/j.scr.2026.103913","DOIUrl":"10.1016/j.scr.2026.103913","url":null,"abstract":"","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103913"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146120085","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
A method for detecting stemness of glioblastoma: 3D-tumor spheroid assay 一种检测胶质母细胞瘤干性的方法：三维肿瘤球体法
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-03-01 Epub Date: 2026-02-07 DOI: 10.1016/j.scr.2026.103925
Yan Chen , Hao Zeng , Kaixiang Ni , Jiantong Jiao , Songtao Qi
{"title":"A method for detecting stemness of glioblastoma: 3D-tumor spheroid assay","authors":"Yan Chen ,&nbsp;Hao Zeng ,&nbsp;Kaixiang Ni ,&nbsp;Jiantong Jiao ,&nbsp;Songtao Qi","doi":"10.1016/j.scr.2026.103925","DOIUrl":"10.1016/j.scr.2026.103925","url":null,"abstract":"<div><div>Glioblastoma is one of the most common primary malignant brain tumors, characterized by high aggressiveness and chemoresistance. Glioma stem like cells (GSCs) are recognized as critical drivers of tumor initiation, intratumoral heterogeneity, and treatment resistance. This protocol establishes a standardized 3D-tumor spheroid assay to functionally evaluate tumor cell stemness, providing a reproducible platform for investigating glioma malignant phenotypes and screening therapeutic strategies targeting GSCs. This streamlined 96 well assay reduces detection time and resource requirements compared to traditional multi round sphere forming workflows, thereby facilitating high throughput drug screening and detailed mechanistic studies of glioma biology in both research and preclinical settings.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103925"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146189607","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 male isogenic pair and a female isogenic pair(R83C) for studying NAA10-related syndrome as part of a large Ogden syndrome biobank 作为大型奥格登综合征生物库的一部分，用于研究naa10相关综合征的雄性等基因对和雌性等基因对（R83C）的生成
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-03-01 Epub Date: 2026-01-06 DOI: 10.1016/j.scr.2025.103901
Soha Patil , Naresh Patel , Rikhil Makwana , Manali Nikte , Dorota Moroziewicz , NYSCF Global Stem Cell Array® Team , Matt Zimmer , Christopher Hunter , Frederick J. Monsma Jr. , Daniel Paull , Josephine Wesely , Gholson J. Lyon
{"title":"Generation of a male isogenic pair and a female isogenic pair(R83C) for studying NAA10-related syndrome as part of a large Ogden syndrome biobank","authors":"Soha Patil ,&nbsp;Naresh Patel ,&nbsp;Rikhil Makwana ,&nbsp;Manali Nikte ,&nbsp;Dorota Moroziewicz ,&nbsp;NYSCF Global Stem Cell Array® Team ,&nbsp;Matt Zimmer ,&nbsp;Christopher Hunter ,&nbsp;Frederick J. Monsma Jr. ,&nbsp;Daniel Paull ,&nbsp;Josephine Wesely ,&nbsp;Gholson J. Lyon","doi":"10.1016/j.scr.2025.103901","DOIUrl":"10.1016/j.scr.2025.103901","url":null,"abstract":"<div><div>Ogden Syndrome, also known as <em>NAA10</em>-related neurodevelopmental disorder, is an X-linked disease caused by pathologic variants in <em>NAA10</em>, the catalytic sub-unit of the NatA N-α-terminal acetyltransferase, and characterized by variable neurologic, behavioral, and cardiovascular deficits. We present the generation of 2 isogenic pairs of patient-derived iPSCs having a R83C mutation in NAA10. A male hemizygous NAA10 line which was corrected to WT, and a female heterozygous which was edited to be WT/WT as well as R83C/R83C. Combined with the published cohort of &gt;30 NAA10-related syndrome patient iPSC lines and isogenic pairs it represents a powerful cohort to investigate NAA10-related syndrome (<span><span>Wesely et al., 2024</span></span>).</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103901"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145980564","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 iPSC lines (SPPHIi005-A, SPPHIi006-A, SPPHIi007-A) from a CRB1-mutation associated retinitis pigmentosa family crb1突变相关视网膜色素变性家族iPSC系（SPPHIi005-A, SPPHIi006-A, SPPHIi007-A）的产生和特性
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-03-01 Epub Date: 2026-02-01 DOI: 10.1016/j.scr.2026.103914
Ning Xiao , Weijia Wu , Lingxue Gong , Ying Lv , Huan Li , Xiaoxin Guo , Yutong Wei , Lixin Zhang , Siyu Zhu , Xiangmei Li , Bo Gong , Bolin Deng , Xueming Ju
{"title":"Generation and characterization of iPSC lines (SPPHIi005-A, SPPHIi006-A, SPPHIi007-A) from a CRB1-mutation associated retinitis pigmentosa family","authors":"Ning Xiao ,&nbsp;Weijia Wu ,&nbsp;Lingxue Gong ,&nbsp;Ying Lv ,&nbsp;Huan Li ,&nbsp;Xiaoxin Guo ,&nbsp;Yutong Wei ,&nbsp;Lixin Zhang ,&nbsp;Siyu Zhu ,&nbsp;Xiangmei Li ,&nbsp;Bo Gong ,&nbsp;Bolin Deng ,&nbsp;Xueming Ju","doi":"10.1016/j.scr.2026.103914","DOIUrl":"10.1016/j.scr.2026.103914","url":null,"abstract":"<div><div>Mutations in the Crumbs homolog 1 (CRB1) gene are associated with autosomal recessive retinal pigmentosa (RP). We derived two human-induced pluripotent stem cell (hiPSC) lines, SPPHIi006-A and SPPHIi007-A, from a consanguineous family affected by RP. These lines carry either a homozygous or heterozygous CRB1 variant c.1997 T &gt; A (p.V666D). Additionally, we established a hiPSC line, SPPHIi005-A, from a healthy family member without the CRB1 mutation to serve as a normal control (HC). All three hiPSC lines demonstrated normal karyotypes, cell morphology, hiPSC markers, and differentiation into three germ layers. These hiPSC lines offer valuable models for exploring therapeutic strategies for CRB1-associated RP.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103914"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146182653","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 5 induced pluripotent stem cell (iPSC) lines from Parkinson’s disease patients carrying GBA1 variants 5种携带GBA1变异的帕金森病患者诱导多能干细胞（iPSC）系的产生和特性
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-03-01 Epub Date: 2026-01-08 DOI: 10.1016/j.scr.2026.103909
Inigo Yoldi Bergua , Ibrahim Boussaad , Elizabet Petkovski , Zied Landoulsi , NCER-PD Consortium , DEEPEN-iRBD Consortium , Rejko Krüger , Giuseppe Arena
{"title":"Generation and characterization of 5 induced pluripotent stem cell (iPSC) lines from Parkinson’s disease patients carrying GBA1 variants","authors":"Inigo Yoldi Bergua ,&nbsp;Ibrahim Boussaad ,&nbsp;Elizabet Petkovski ,&nbsp;Zied Landoulsi ,&nbsp;NCER-PD Consortium ,&nbsp;DEEPEN-iRBD Consortium ,&nbsp;Rejko Krüger ,&nbsp;Giuseppe Arena","doi":"10.1016/j.scr.2026.103909","DOIUrl":"10.1016/j.scr.2026.103909","url":null,"abstract":"<div><div>Parkinson’s disease (PD) patients carrying variants in <em>GBA1</em> exhibit distinct phenotypic characteristics of disease, including earlier age at onset, faster motor decline and higher frequency of cognitive decline. As carriers of <em>GBA1</em> define a relevant PD subgroup and in order to prepare for future precision medicine approaches to treat <em>GBA1</em>-mediated PD, we generated 5 induced pluripotent stem cell (iPSC) lines from primary skin fibroblasts of PD patients, each carrying a heterozygous variant in <em>GBA1</em> (p.L483P; p.L483P; p.G241R; p.N409S; p.N409S). iPSCs pluripotency was confirmed by qPCR and immunocytochemistry, and their ability to differentiate into the 3 germ layers was validated.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103909"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145941353","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 SV2A knockout human embryonic stem cell line by CRISPR/Cas9 system 利用CRISPR/Cas9系统产生SV2A基因敲除的人胚胎干细胞系。
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-03-01 Epub Date: 2026-02-07 DOI: 10.1016/j.scr.2026.103924
Feng Yao , Xing Qi , Shan Yongli , Zhong Xiaofen
{"title":"Generation of a SV2A knockout human embryonic stem cell line by CRISPR/Cas9 system","authors":"Feng Yao ,&nbsp;Xing Qi ,&nbsp;Shan Yongli ,&nbsp;Zhong Xiaofen","doi":"10.1016/j.scr.2026.103924","DOIUrl":"10.1016/j.scr.2026.103924","url":null,"abstract":"<div><div>Synaptic Vesicle Glycoprotein 2A (SV2A) is a ubiquitously expressed brain glycoprotein, localized to synaptic terminals. It regulates vesicle exocytosis, maintains neurotransmitter release, and serves as a receptor for both botulinum neurotoxins (e.g., BoNT/A) and tetanus neurotoxin (TeNT). It is a target for antiseizure drugs and implicated in epilepsy, Alzheimer’s, and Parkinson’s diseases. We generated a homozygous <em>SV2A</em>-knockout human embryonic stem cell (hESC) line WAe001-A-3F (H1-<em>SV2A<sup>−/−</sup></em>), using CRISPR/Cas9 genome editing technology. The <em>SV2A</em>-knockout embryonic stem cell lines provide a precise in vitro model to dissect its roles in synaptic function and disease mechanisms.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103924"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146182636","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 (iPSC) line (IPSCi001-A), from a 40-year-old female patient with occult macular dystrophy carrying the c.133C > T mutation in the RP1L1 gene 诱导多能干细胞（iPSC）系（IPSCi001-A）的产生，来自一名40岁的女性隐匿性黄斑营养不良患者，该患者携带RP1L1基因的c.133C > T突变
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-03-01 Epub Date: 2026-01-10 DOI: 10.1016/j.scr.2025.103902
An-Guor Wang , Chun-Ying Huang , Hui-Chen Cheng , Wei-Che Hung , Yen-Fu Cheng
{"title":"Generation of an induced pluripotent stem cell (iPSC) line (IPSCi001-A), from a 40-year-old female patient with occult macular dystrophy carrying the c.133C > T mutation in the RP1L1 gene","authors":"An-Guor Wang ,&nbsp;Chun-Ying Huang ,&nbsp;Hui-Chen Cheng ,&nbsp;Wei-Che Hung ,&nbsp;Yen-Fu Cheng","doi":"10.1016/j.scr.2025.103902","DOIUrl":"10.1016/j.scr.2025.103902","url":null,"abstract":"<div><div>Occult macular dystrophy (OMD) is a hereditary macular disease characterized by no visible macular abnormalities. It is an autosomal dominant disease associated with retinitis pigmentosa 1 like 1 (RP1L1) gene mutation. c.133C &gt; T mutation in the RP1L1 gene is the primary cause of severe visual impairment in OMD patients. The induced pluripotent stem cell (iPSC) line was generated using the integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a vision-impaired patient harboring heterozygous RP1L1 c.133C &gt; T mutation. This cell line may serve as a cellular model for studying the pathogenic mechanisms of OMD caused by RP1L1 mutation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103902"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145980563","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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