由TTN基因突变引起的扩张型心肌病患者诱导多能干细胞系（SSMCi001-A）的产生

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-06-30 DOI:10.1016/j.scr.2025.103763

Xia Li , Yuanxi Wang , Jian Hou , Weixin Li , Yongli Shan , Ning Zhang , Yanli Hu , Cheng Wang , Yan Long

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引用次数: 0

摘要

扩张型心肌病（DCM）是心力衰竭的主要诱因，也是世界范围内心脏移植的主要指征。在这项研究中，我们从一名DCM患者身上获得了一株人诱导多能干细胞（hiPSC）系，该细胞系含有titin （TTN）基因的三重杂合突变，采用非整合的episomal载体进行重编程。建立的细胞系保持了正常的男性核型（46，XY），表达了特征性的多能性标记，并在体外表现出强大的三期分化潜力。这种疾病特异性iPSC模型为研究TTN突变相关DCM发病机制的分子机制和制定靶向治疗策略提供了一个有价值的平台。

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Generation of an induced pluripotent stem cell line (SSMCi001-A) from a dilated cardiomyopathy patient due to mutations in the TTN gene

Dilated cardiomyopathy (DCM) represents a major contributor to heart failure and serves as the primary indication for heart transplantation worldwide. In this study, we generated a human induced pluripotent stem cell (hiPSC) line from a DCM patient harboring triple heterozygous mutations in the titin (TTN) gene, employing non-integrating episomal vectors for reprogramming. The established cell line maintained a normal male karyotype (46, XY), expressed characteristic pluripotency markers, and exhibited robust trilineage differentiation potential in vitro. This disease-specific iPSC model provides a valuable platform for investigating the molecular mechanisms underlying TTN mutation-associated DCM pathogenesis and for developing targeted therapeutic strategies.

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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.