A heterozygous MYBPC3 (c. 772+1G > A) mutant human induced pluripotent stem cell line (ZZUNEUi025-A) generated from a male patient with hypertrophic cardiomyopathy

oleh: Xi Zhao, Jinhua Cao, Xiaowei Li, Mengduan Liu, Yangyang Liu, Jianzeng Dong, Xiaoyan Zhao

Format: Article
Diterbitkan: Elsevier 2022-04-01

Deskripsi

Hypertrophic cardiomyopathy (HCM) is the most common heterogeneous myocardial disease. MYBPC3 variants are the leading cause of HCM. In the present study, a human induced pluripotent stem cell (iPSC) line ZZUNEUi025-A was generated from peripheral blood mononuclear cells of a male HCM patient with c. 772+1G > A in MYBPC3 gene. This cell line expressed pluripotency markers, had normal male karyotype and could differentiate into three germ layers in vitro.