携带DSG2 c.1672C > T致病变异的致心律失常性心肌病患者的人类iPSC细胞系UNIPDi006-A的生成

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-03-13 DOI:10.1016/j.scr.2025.103695

Claudia Sacchetto , Martina Rabino , Marianna Paulis , Sabina Ferron , Barbara Bauce , Libero Vitiello , Alessandra Rampazzo , Leon J. de Windt , Elisa Di Pasquale , Martina Calore

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引用次数: 0

摘要

心律失常性心肌病（ACM）是一种以心律失常、心源性猝死风险和心肌进行性纤维脂肪替代为特征的遗传性心脏病。DSG2编码桥粒蛋白-2，是ACM患者中最常见的突变基因之一。我们从一名ACM患者的上皮肾细胞中获得了人诱导多能干细胞（hiPSCs），该细胞携带杂合无链DSG2 c.1672C >；T突变。生成的hiPSCs核型正常，多能性标记物表达正常，具有三龄分化潜能。报道的细胞系（UNIPDi006-A）可能是体外模拟ACM的有用工具。

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Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant

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.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

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.