从携带 MYH7/c.4384G ＞ A 突变的肥厚型心肌病患者中诱导生成多能干细胞系（ZJULLi003-A）。
Generation of an induced pluripotent stem cell line (ZJULLi003-A) from a hypertrophic cardiomyopathy patient carrying MYH7/c.4384G > A mutation.
机构信息
Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China; Institute of Translational Medicine, Zhejiang University, Hangzhou 310029, China.
Department of Cardiology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China; Key Laboratory of Cardiovascular Intervention and Regenerative Medicine of Zhejiang Province, Hangzhou 310016, China.
出版信息
Stem Cell Res. 2022 Oct;64:102883. doi: 10.1016/j.scr.2022.102883. Epub 2022 Aug 2.
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant inherited cardiovascular disease characterized by left ventricular hypertrophy and cardiomyocyte disarray. In this study, a skin biopsy was obtained from a HCM patient, who carried a missense mutation (c.4384G > A; p.E1462K) in the myosin heavy chain 7 (MYH7) gene. The skin fibroblasts were subsequently reprogrammed with a non-integrated Sendai viral method to generate a patient-specific induced pluripotent stem cell (iPSC) line. The generated iPSC line showed typical morphology and normal karyotype, expressed pluripotency markers, and was capable to differentiate into three germ layers.
肥厚型心肌病（HCM）是一种常染色体显性遗传性心血管疾病，其特征为左心室肥厚和心肌细胞排列紊乱。在本研究中，对一名携带肌球蛋白重链 7 （MYH7）基因突变（c.4384G > A；p.E1462K）的 HCM 患者进行了皮肤活检。随后，通过非整合性仙台病毒方法对皮肤成纤维细胞进行重编程，以生成患者特异性诱导多能干细胞（iPSC）系。生成的 iPSC 系表现出典型的形态和正常核型，表达多能性标志物，并能够分化为三个胚层。
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