Establishment of an induced pluripotent stem cell line (ZJULLi004-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3/c.3764C>A mutation

Yaxun Sun; Jingjun Zhou; Hongkun Wang; Hao Wang; Xianzhen Chen; Tingyu Gong; Ping Liang; Chenyang Jiang

doi:10.1016/j.scr.2022.102898

Establishment of an induced pluripotent stem cell line (ZJULLi004-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3/c.3764C>A mutation

Stem Cell Res. 2022 Oct:64:102898. doi: 10.1016/j.scr.2022.102898. Epub 2022 Aug 23.

Authors

Yaxun Sun¹, Jingjun Zhou², Hongkun Wang², Hao Wang³, Xianzhen Chen⁴, Tingyu Gong², Ping Liang⁵, Chenyang Jiang⁶

Affiliations

¹ Department of Cardiology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China; Key Laboratory of Cardiovascular Intervention and Regenerative Medicine of Zhejiang Province, Hangzhou 310016, China.
² Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China; Institute of Translational Medicine, Zhejiang University, Hangzhou 310029, China.
³ Prenatal Diagnosis Center, Hangzhou Women's Hospital, Hangzhou 310008, China; Department of Cell Biology and Medical Genetics, Zhejiang University School of Medicine, Hangzhou 310058, China.
⁴ Department of Dermatology and Venereology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China.
⁵ Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China; Institute of Translational Medicine, Zhejiang University, Hangzhou 310029, China. Electronic address: pingliang@zju.edu.cn.
⁶ Department of Cardiology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China; Key Laboratory of Cardiovascular Intervention and Regenerative Medicine of Zhejiang Province, Hangzhou 310016, China. Electronic address: cyjiang@zju.edu.cn.

PMID: 36041398
DOI: 10.1016/j.scr.2022.102898

Abstract

Hypertrophic cardiomyopathy (HCM) is an inherited cardiovascular disease characterized by left ventricular hypertrophy and a high risk of sudden death. In this study, a skin biopsy was obtained from a HCM patient harboring a heterozygous missense mutation (c.3764C>A; p.A1225D) in the myosin binding protein C3 (MYBPC3) gene. The isolated fibroblasts were reprogrammed using non-integrated Sendai viral method to establish the patient-specific induced pluripotent stem cell (iPSC) line. The established iPSC line displayed normal morphology and karyotype, expressed pluripotency markers, and can differentiate into three germ layers in vivo.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cardiomyopathy, Hypertrophic* / pathology
Heterozygote
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation
Myosins / metabolism

Substances

Myosins
myosin-binding protein C