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

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

MeSH: Cardiomyopathy, Hypertrophic* / pathology ; Cell Line* ; Humans ; Induced Pluripotent Stem Cells* / metabolism ; Leukocytes, Mononuclear / metabolism ; Mutation / genetics

Abstract: 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.

Appears in Collections:: 1. College of Medicine (의과대학) > Dept. of Biochemistry and Molecular Biology (생화학-분자생물학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Biomedical Systems Informatics (의생명시스템정보학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Tropica Medicine (열대의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers

Yonsei Authors: Kang, Seok Min(강석민) https://orcid.org/0000-0001-9856-9227
Kim, Sangwoo(김상우) https://orcid.org/0000-0001-5356-0827
Kim, Hyoung Pyo(김형표) https://orcid.org/0000-0003-1441-8822
Park, Sahng Wook(박상욱) https://orcid.org/0000-0002-9594-7074
Oh, Jae Won(오재원) https://orcid.org/0000-0002-4585-1488
Won, Dongju(원동주) https://orcid.org/0000-0002-0084-0216
Lee, Seung-Tae(이승태) https://orcid.org/0000-0003-1047-1415
Lee, Seung Hyun(이승현) https://orcid.org/0000-0001-7549-9430
Choi, Jong Rak(최종락) https://orcid.org/0000-0002-0608-2989

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