Generation of two induced pluripotent stem cell lines, SHIPMi001-A from a patient with hypertrophic cardiomyopathy caused by MYBPC3 gene mutation and SHIPMi002-A from a healthy male individual

Yue Wang; Weiyao Xiong; Shuangxia Zhao; Bin Li; Alex Chia Yu Chang

doi:10.1016/j.scr.2021.102594

Generation of two induced pluripotent stem cell lines, SHIPMi001-A from a patient with hypertrophic cardiomyopathy caused by MYBPC3 gene mutation and SHIPMi002-A from a healthy male individual

Stem Cell Res. 2021 Dec:57:102594. doi: 10.1016/j.scr.2021.102594. Epub 2021 Nov 10.

Authors

Yue Wang¹, Weiyao Xiong², Shuangxia Zhao³, Bin Li⁴, Alex Chia Yu Chang⁵

Affiliations

¹ Department of Cardiology, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200011, China.
² Department of Cardiology and Shanghai Institute of Precision Medicine, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China.
³ The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, Shanghai Ninth People's Hospital, State Key Laboratory of Medical Genomics, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
⁴ Department of Cardiology and Shanghai Institute of Precision Medicine, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China. Electronic address: leo1989jt@gmail.com.
⁵ Department of Cardiology and Shanghai Institute of Precision Medicine, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China. Electronic address: alexchang@shsmu.edu.cn.

PMID: 34785479
DOI: 10.1016/j.scr.2021.102594

Abstract

Hypertrophic cardiomyopathy is a hereditary disease with high incidence of sudden death and heart failure. Myosin-binding protein C3 (MYBPC3) is the most commonly mutation gene. Here, we report the establishment of two human induced pluripotent stem cell (iPSC) lines: one from a patient carrying a heterozygous c.1377delC mutation in MYBPC3 (c.1377delC: p.L460Wfs) and one from a healthy donor. The generated iPSC lines showed comparable pluripotent genes, demonstrated the capacity to differentiate into derivatives of all three germ layers and normal karyotypes. These lines are valuable for the mechanism research and drug development of hypertrophic cardiomyopathy.