Generation of an induced pluripotent stem cell line (ZJULLi003-A) from a hypertrophic cardiomyopathy patient carrying MYH7/c.4384G > A mutation

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

doi:10.1016/j.scr.2022.102883

Generation of an induced pluripotent stem cell line (ZJULLi003-A) from a hypertrophic cardiomyopathy patient carrying MYH7/c.4384G > A mutation

Stem Cell Res. 2022 Oct:64:102883. doi: 10.1016/j.scr.2022.102883. Epub 2022 Aug 2.

Authors

Jingjun Zhou¹, Yaxun Sun², Hongkun Wang¹, Hao Wang³, Fengfeng Guo¹, Xianzhen Chen⁴, Tingyu Gong¹, Chenyang Jiang⁵, Ping Liang⁶

Affiliations

¹ 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.
² 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.
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 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: [email protected].
⁶ 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: [email protected].

PMID: 35944310
DOI: 10.1016/j.scr.2022.102883

Abstract

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant inherited cardiovascular disease characterized by left ventricular hypertrophy and cardiomyocyte disarray. In this study, a skin biopsy was obtained from a HCM patient, who carried a missense mutation (c.4384G > A; p.E1462K) in the myosin heavy chain 7 (MYH7) gene. The skin fibroblasts were subsequently reprogrammed with a non-integrated Sendai viral method to generate a patient-specific induced pluripotent stem cell (iPSC) line. The generated iPSC line showed typical morphology and normal karyotype, expressed pluripotency markers, and was capable to differentiate into three germ layers.

Publication types

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

MeSH terms

Cardiac Myosins / genetics
Cardiomyopathy, Hypertrophic* / genetics
Cardiomyopathy, Hypertrophic* / pathology
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation / genetics
Mutation, Missense
Myosin Heavy Chains / genetics

Substances

Myosin Heavy Chains
MYH7 protein, human
Cardiac Myosins