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

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.
Yaxun Sun 1,  Jingjun Zhou 2,  Hongkun Wang 2,  Hao Wang 3,  Xianzhen Chen 4,  Tingyu Gong 2,  Ping Liang 5,  Chenyang Jiang 6
Affiliations

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.

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