Establishment of an induced pluripotent stem cell line (HMUCPi001-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3 c.3072C > A mutation
Summary
Hypertrophic cardiomyopathy (HCM) is an inherited cardiovascular disorder characterized by left ventricular hypertrophy and an elevated risk of sudden cardiac death. Cardiac myosin binding protein C (MYBPC3) is the most frequently mutated gene leading to HCM. In this study, peripheral blood mononuclear cells isolated from an HCM patient harboring a heterozygous MYBPC3 missense mutation (c.3072C > A; p.S1024R) were reprogrammed via Sendai virus vectors to generate a patient-specific induced pluripotent stem cell (iPSC) line. The iPSC line exhibits normal morphology and karyotype, alongside definitive hallmarks of pluripotency, including trilineage differentiation potential. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Liu D, Yang M, Fan S, Gong M, Zhang Y, Jiang Y, Wang S, Wang H, Zhang M, Zhang Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Oct;88:103841 |
| PubMed | 40992250 |
| DOI | 10.1016/j.scr.2025.103841 |