Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
Summary
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder characterized by a thick left ventricular wall and an increased risk of arrhythmias, heart failure, and sudden cardiac death. The MYBPC3 and PRAKG2 are known causal genes for HCM. Here we generated two human-induced pluripotent stem cell lines from two HCM patients carrying two heterozygous mutations in MYBPC3 (c.459delC) and PRKAG2 (c.1703C > T). Both iPSC lines expressed pluripotent markers, had a normal karyotype, and were able to differentiate into three germ layers, making them potentially valuable tools for modeling HCM in vitro and investigating the pathological mechanisms related to these two variants. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Manhas A, Jahng JWS, Vera CD, Shenoy SP, Knowles JW, Wu JC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 May;61:102774 |
| PubMed | 35413566 |
| PubMed Central | PMC9708393 |
| DOI | 10.1016/j.scr.2022.102774 |