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

Stem cell research - 1 Aug 2022

Kim Hyoeun, Kim Hyeong-Jin, Oh Jaewon, Lee Seung-Tae, Won Dongju, Choi Hyo-Kyoung, Choi Jong Rak, Kim Sangwoo, Kim Hyoung-Pyo, Kim Seok-Jun, Park Sahng Wook, Kang Seok-Min, Lee Seung-Hyun

Abstract excerpt

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...

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PMID: 35917599
DOI: 10.1016/j.scr.2022.102874

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