从一名肥厚型心肌病患者中产生的杂合型MYH7（c. 2156G>A）突变人类诱导多能干细胞系（ZZUNEUi020-A）。
A heterozygous MYH7 (c. 2156G > A) mutant human induced pluripotent stem cell line (ZZUNEUi020-A) generated from a patient with hypertrophic cardiomyopathy.
作者信息
Li Xiaowei, Fu Wanrong, Guo Guangli, Liu Mengduan, Du Wenting, Zhao Jing, Liu Yangyang, Wang Lu, Dong Jianzeng, Zhao Xiaoyan
机构信息
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.
出版信息
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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