从一名携带ACTA1基因p.Ile343Met突变的肥厚型心肌病患者中产生的诱导多能干细胞系（YCMi006-A）。
An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met.
作者信息
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
机构信息
Department of Biochemistry and Molecular Biology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea.
Division of Cardiology, Severance Cardiovascular Hospital, Cardiovascular Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea.
出版信息
Stem Cell Res. 2022 Aug;63:102874. doi: 10.1016/j.scr.2022.102874. Epub 2022 Jul 28.
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.
肥厚型心肌病（HCM）是一种常见的遗传性心血管疾病，其特征是左心室肥厚。我们将一名HCM患者的外周血单个核细胞（PBMC）重编程为携带ACTA1基因杂合c.1029C＞G突变的多能干细胞（iPSC）（YCMi006-A）。YCMi006-A细胞表达高水平的多能性标志物，具有正常的46XX核型，并表现出分化为所有三个胚层衍生物的能力。该细胞系可作为研究HCM发病机制的宝贵工具。
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