Li Xiaowei, Fu Wanrong, Guo Guangli, Liu Mengduan, Du Wenting, Zhao Jing, Liu Yangyang, Wang Lu, Dong Jianzeng, Zhao Xiaoyan
Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Henan Key Laboratory of Hereditary Cardiovascular Diseases, Zhengzhou 450052, China.
Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Stem Cell Res. 2021 Mar;51:102158. doi: 10.1016/j.scr.2021.102158. Epub 2021 Jan 8.
Hypertrophic cardiomyopathy (HCM) is a heterogeneous myocardial disease often caused by sarcomeric gene mutations. MYH7 is one of the most common genes associated with HCM. In this study, we generated a human induced pluripotent stem cell (iPSC) line ZZUNEUi020-A from peripheral blood mononuclear cells of a female HCM patient with the p. R719Q (c. 2156G > A) mutation in MYH7. This cell line expressed pluripotency markers, showed normal female karyotype and could differentiate into all three germ layers in vitro.
肥厚型心肌病（HCM）是一种异质性心肌疾病，通常由肌节基因突变引起。MYH7是与HCM相关的最常见基因之一。在本研究中，我们从一名患有MYH7基因p.R719Q（c.2156G＞A）突变的女性HCM患者的外周血单个核细胞中生成了人诱导多能干细胞（iPSC）系ZZUNEUi020-A。该细胞系表达多能性标志物，显示正常女性核型，并且在体外可分化为所有三个胚层。
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