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Derivation of YCMi005-A, a human-induced pluripotent stem cell line, from a patient with dilated cardiomyopathy carrying missense variant in TPM1 (p. Glu192Lys)

Authors
 Yun-Ji Cha  ;  Sae-Bom Jeon  ;  Jaewon Oh  ;  Seung-Tae Lee  ;  Sangwoo Kim  ;  Hyoeun Kim  ;  Jungyoon Choi  ;  Hyo-Kyoung Choi  ;  Dongju Won  ;  Jong Rak Choi  ;  Seok-Jun Kim  ;  Sahng Wook Park  ;  Seok-Min Kang  ;  Seung-Hyun Lee 
Citation
 STEM CELL RESEARCH, Vol.60 : 102707, 2022-04 
Journal Title
STEM CELL RESEARCH
ISSN
 1873-5061 
Issue Date
2022-04
MeSH
Cardiomyopathy, Dilated* / genetics ; Cell Differentiation ; Humans ; Induced Pluripotent Stem Cells* ; Mutation ; Mutation, Missense ; Tropomyosin / genetics
Abstract
Dilated cardiomyopathy (DCM) is one of the leading causes of heart transplantation. The clinical feature of DCM is characterized by enlarged heart and impaired function of the left or both ventricles, while its etiology is varied. In this study, we generated YCMi005-A, a human-induced pluripotent stem cell (hiPSC) line from a patient with DCM carrying the missense mutation of p.Glu192Lys in the TPM1 genes. YCMi005-A, an established hiPSC, showed the normal karyotype (46, XX) and high expression of pluripotency markers. In addition, it was confirmed that YCMi005-A has the differentiation potential assessed by staining of three germ layer markers.
Files in This Item:
T202200526.pdf Download
DOI
10.1016/j.scr.2022.102707
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
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, Hyoeun(김효은) ORCID logo https://orcid.org/0000-0002-7334-9700
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
Jeon, Sae-Bom(전새봄) ORCID logo https://orcid.org/0000-0002-0206-5532
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/188249
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