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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

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 
Citation
 STEM CELL RESEARCH, Vol.63 : 102874, 2022-08 
Journal Title
STEM CELL RESEARCH
ISSN
 1873-5061 
Issue Date
2022-08
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.
Files in This Item:
T202204881.pdf Download
DOI
10.1016/j.scr.2022.102874
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 Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Others (기타) > 1. Journal Papers
Yonsei Authors
Kang, Seok Min(강석민) ORCID logo https://orcid.org/0000-0001-9856-9227
Kim, Sangwoo(김상우) ORCID logo https://orcid.org/0000-0001-5356-0827
Kim, Hyoung Pyo(김형표) ORCID logo https://orcid.org/0000-0003-1441-8822
Park, Sahng Wook(박상욱) ORCID logo https://orcid.org/0000-0002-9594-7074
Oh, Jae Won(오재원) ORCID logo https://orcid.org/0000-0002-4585-1488
Won, Dongju(원동주) ORCID logo https://orcid.org/0000-0002-0084-0216
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Lee, Seung Hyun(이승현) ORCID logo https://orcid.org/0000-0001-7549-9430
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/191906
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