从携带LMNA c.821C >t致病变异的心律失常性右室心肌病(ARVC)患者身上产生的人iPSC系(AHJNMUi001-A

IF 0.7 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
Yuanyuan Han , Haiyan Wang , Hongsheng Zhang , Manman Wang , Lijun Gan , Fanhua Meng
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引用次数: 0

摘要

心律失常性右室心肌病(ARVC)是一种遗传性浸润性心肌病,以纤维脂肪替代右心室心肌为特征,晚期可扩展至左心室。临床上,这种情况通常与右心室扩张、恶性心律失常和心源性猝死的风险增加有关。在本研究中,我们利用基于仙台病毒的非整合重编程方法,从ARVC患者外周血单个核细胞中成功建立了携带杂合LMNA基因突变(c.821C>;T, p.A274D)的诱导多能干细胞(iPSC)系。所得到的细胞系表现出典型的多能干细胞形态、正常核型和三期分化潜能。此外,它们稳定表达关键的多能性标记物,使它们成为研究ARVC病理生理机制和药物筛选的有价值的模型。这个模型对精准医学具有重要的转化潜力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Generation of the human iPSC line (AHJNMUi001-A) from a patient with arrhythmogenic right ventricular cardiomyopathy (ARVC) carrying the LMNA c.821C>T pathogenic variant
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary infiltrative cardiomyopathy characterized by fibrofatty replacement of the right ventricular myocardium, which may extend to the left ventricle in the advanced stages. Clinically, the condition is commonly associated with right ventricular dilation, malignant arrhythmias, and an increased risk of sudden cardiac death. In this study, we successfully established induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of ARVC patients carrying a heterozygous LMNA gene mutation (c.821C>T, p.A274D), using a non-integrating Sendai virus-based reprogramming method. The resulting cell lines displayed typical pluripotent stem cell morphology, a normal karyotype, and trilineage differentiation potential. Furthermore, they stably expressed key pluripotency markers, making them a valuable model for investigating the pathophysiological mechanisms of ARVC and for drug screening. This model holds significant translational potential for precision medicine.
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来源期刊
Stem cell research
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.
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