Generation of an induced pluripotential stem cell (iPSC) line from a patient with hypertrophic cardiomyopathy carrying myosin binding protein C (MYBPC3) c.3369-3370 insC mutation

Jingjun Jin; Lihong Lu; Jinyan Chen; Kun Wang; Junyong Han; Shijie Xue; Guoxing Weng

doi:10.1016/j.scr.2020.102144

Generation of an induced pluripotential stem cell (iPSC) line from a patient with hypertrophic cardiomyopathy carrying myosin binding protein C (MYBPC3) c.3369-3370 insC mutation

Stem Cell Res. 2020 Dec 26:50:102144. doi: 10.1016/j.scr.2020.102144. Online ahead of print.

Authors

Jingjun Jin¹, Lihong Lu², Jinyan Chen³, Kun Wang⁴, Junyong Han⁴, Shijie Xue⁴, Guoxing Weng⁵

Affiliations

¹ Translational Medicine Research Center, Fujian Academy of Medical Sciences, Fuzhou 350001, China. Electronic address: yolanda_jin19@hotmail.com.
² Shengli Clinical Medical College of Fujian Medical University, Fuzhou 350001, China.
³ Translational Medicine Research Center, Fujian Academy of Medical Sciences, Fuzhou 350001, China.
⁴ Department of Immunology, Fujian Academy of Medical Sciences, Fuzhou 350001, China.
⁵ Translational Medicine Research Center, Fujian Academy of Medical Sciences, Fuzhou 350001, China; Shengli Clinical Medical College of Fujian Medical University, Fuzhou 350001, China. Electronic address: gxw001@sina.com.

PMID: 33388705
DOI: 10.1016/j.scr.2020.102144

Abstract

Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle becomes abnormally thick making it difficult for the heart to pump blood. In this study an induced pluripotent stem cells (iPSC) line was derived from peripheral blood mononuclear cells of a 62-year-old male hypertrophic cardiomyopathy (HCM) patient with the mutation of heterozygous pathogenic myosin binding protein C (MYBPC3) c.3369-3370 insC using an episomal method. The generated iPSC line presented normal 46, XY male karyotypes, expressed pluripotent markers and could spontaneously differentiate into triblast cells. This HCM-specific iPSC line could act as a useful tool for studying and modeling hypertrophic cardiomyopathy.