Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations
Summary
MYH7 heterozygous mutations are common genetic causes of hypertrophic cardiomyopathy (HCM). HCM is characterized by hypertrophy of the left ventricle and diastolic dysfunction. We generated three human induced pluripotent stem cell (iPSC) lines from three HCM patients each carrying a single heterozygous mutation in MYH7, c.2167C > T, c.4066G > A, and c.5135G > A, respectively. All lines expressed high levels of pluripotent markers, had normal karyotype, and possessed capability of differentiation into derivatives of the three germ layers, which can serve as valuable tools for modeling HCM in vitro and investigating the pathological mechanisms related to MYH7 mutations. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Cao X, Jahng JWS, Lee C, Zha Y, Wheeler MT, Sallam K, Wu JC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Aug;55:102455 |
| PubMed | 34352619 |
| PubMed Central | PMC10339835 |
| DOI | 10.1016/j.scr.2021.102455 |