Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy
Summary
Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by diastolic dysfunction, which affects cardiac systolic function. We successfully established human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells of 24-year-old male with restrictive cardiomyopathy (RCM). The patient-derived hiPSCs carried heterozygous mutation of CRYAB gene (c.326A > G, p.D109G), which was consistent with clinical whole exon sequencing results. We confirmed the pluripotency, multipotential differentiation and karyotype of hiPSCs. The hiPSCs will be useful for studying the pathogenesis of RCM caused by CRYAB (c.326A > G) mutation. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Li J, Jiang J, Ye L, Lian Z, Gong H, Lei W, Dai Y, Hu S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103370 |
| PubMed | 38428347 |
| DOI | 10.1016/j.scr.2024.103370 |