An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met
Summary
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease and is characterized by hypertrophy of the left ventricle. We reprogrammed peripheral blood mononuclear cells (PBMCs) from a HCM patient into pluripotent stem cells (iPSC) (YCMi006-A) carrying a heterozygous c.1029C > G mutation in ACTA1. The YCMi006-A cells expressed high levels of pluripotent markers, had a normal 46XX karyotype and demonstrated the capacity to differentiate into derivatives of all three germ layers. This cell line can be a valuable tool for investigating the pathogenesis of HCM. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Kim H, Kim HJ, Oh J, Lee ST, Won D, Choi HK, Choi JR, Kim S, Kim HP, Kim SJ, Park SW, Kang SM, Lee SH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Aug;63:102874 |
| PubMed | 35917599 |
| DOI | 10.1016/j.scr.2022.102874 |