从携带MYBPC3 c.3072C > a突变的肥厚性心肌病患者身上建立诱导多能干细胞系（HMUCPi001-A）

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-09-20 DOI:10.1016/j.scr.2025.103841

Dongping Liu , Mingyu Yang , Shasha Fan , Manyu Gong , Ying Zhang , Yanan Jiang , Siyu Wang , Hao Wang , Maomao Zhang , Ying Zhang

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引用次数: 0

摘要

肥厚性心肌病（HCM）是一种以左心室肥厚和心源性猝死风险增高为特征的遗传性心血管疾病。心肌肌球蛋白结合蛋白C （MYBPC3）是导致HCM最常见的突变基因。在这项研究中，从HCM患者分离的外周血单个核细胞携带杂合MYBPC3错义突变（c.3072C和gt； a; p.S1024R），通过仙台病毒载体重新编程，产生患者特异性诱导多能干细胞（iPSC）系。iPSC系表现出正常的形态和核型，以及多能性的明确标志，包括三岁分化潜力。

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Establishment of an induced pluripotent stem cell line (HMUCPi001-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3 c.3072C > A mutation

Hypertrophic cardiomyopathy (HCM) is an inherited cardiovascular disorder characterized by left ventricular hypertrophy and an elevated risk of sudden cardiac death. Cardiac myosin binding protein C (MYBPC3) is the most frequently mutated gene leading to HCM. In this study, peripheral blood mononuclear cells isolated from an HCM patient harboring a heterozygous MYBPC3 missense mutation (c.3072C > A; p.S1024R) were reprogrammed via Sendai virus vectors to generate a patient-specific induced pluripotent stem cell (iPSC) line. The iPSC line exhibits normal morphology and karyotype, alongside definitive hallmarks of pluripotency, including trilineage differentiation potential.

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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.