Claudia Sacchetto , Martina Rabino , Marianna Paulis , Sabina Ferron , Barbara Bauce , Libero Vitiello , Alessandra Rampazzo , Leon J. de Windt , Elisa Di Pasquale , Martina Calore
{"title":"Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant","authors":"Claudia Sacchetto , Martina Rabino , Marianna Paulis , Sabina Ferron , Barbara Bauce , Libero Vitiello , Alessandra Rampazzo , Leon J. de Windt , Elisa Di Pasquale , Martina Calore","doi":"10.1016/j.scr.2025.103695","DOIUrl":null,"url":null,"abstract":"<div><div>Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias, risk of sudden cardiac death, and progressive fibro-fatty replacement in the myocardium. <em>DSG2</em>, encoding the desmosomal protein desmoglein-2, is one of the most frequently mutated genes in patients with ACM. We generated human induced pluripotent stem cells (hiPSCs) from epithelial renal cells of one ACM patient carrying the heterozygous nonsense DSG2 c.1672C > T mutation. The generated hiPSCs showed normal karyotype, expression of pluripotency markers, and trilineage differentiation potential. The reported line (UNIPDi006-A) might represent a useful tool for <em>in vitro</em> modeling of ACM.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103695"},"PeriodicalIF":0.7000,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Stem cell research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1873506125000455","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/3/13 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias, risk of sudden cardiac death, and progressive fibro-fatty replacement in the myocardium. DSG2, encoding the desmosomal protein desmoglein-2, is one of the most frequently mutated genes in patients with ACM. We generated human induced pluripotent stem cells (hiPSCs) from epithelial renal cells of one ACM patient carrying the heterozygous nonsense DSG2 c.1672C > T mutation. The generated hiPSCs showed normal karyotype, expression of pluripotency markers, and trilineage differentiation potential. The reported line (UNIPDi006-A) might represent a useful tool for in vitro modeling of ACM.
期刊介绍：
Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
