A heterozygous MYH7 (c. 2156G > A) mutant human induced pluripotent stem cell line (ZZUNEUi020-A) generated from a patient with hypertrophic cardiomyopathy

源自肥厚型心肌病患者的杂合 MYH7(c.2156G > A)突变人类诱导多能干细胞系 (ZZUNEUi020-A)

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作者:Xiaowei Li, Wanrong Fu, Guangli Guo, Mengduan Liu, Wenting Du, Jing Zhao, Yangyang Liu, Lu Wang, Jianzeng Dong, Xiaoyan Zhao

Abstract

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.

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