An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met


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

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