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

被引：2

作者：

Cha, Yun-Ji ^{[1
]}

Jeon, Sae-Bom ^{[1
]}

Oh, Jaewon ^{[3
]}

Lee, Seung-Tae ^{[4
]}

Kim, Sangwoo ^{[8
,9
]}

Kim, Hyoeun ^{[1
]}

Choi, Jungyoon ^{[1
]}

Choi, Hyo-Kyoung ^{[5
]}

Won, Dongju ^{[4
]}

Choi, Jong Rak ^{[4
]}

Kim, Seok-Jun ^{[6
,7
]}

Park, Sahng Wook ^{[1
,2
]}

Kang, Seok-Min ^{[3
]}

Lee, Seung-Hyun ^{[1
,2
]}

机构：

[1] Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea

[2] Yonsei Univ, Grad Sch Med Sci, Dept Biochem & Mol Biol, Coll Med,Brain Korea 21 Project, 50-1 Yonsei Ro, Seoul 03722, South Korea

[3] Yonsei Univ, Severance Cardiovasc Hosp, Cardiovasc Res Inst, Div Cardiol,Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea

[4] Yonsei Univ, Dept Lab Med, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea

[5] Korea Food Res Inst, Res Grp Healthcare, Wanju Gun 55365, Jeollabuk Do, South Korea

[6] Chosun Univ, Dept Biomed Sci, Dept Integrat Biol Sci, Gwangju 61452, South Korea

[7] Chosun Univ, BK21 FOUR Educ Res Grp Age Associated Disorder Co, Gwangju 61452, South Korea

[8] Yonsei Univ, Coll Med, Dept Biomed Syst Informat, 50-1 Yonsei Ro, Seoul 03722, South Korea

[9] Yonsei Univ, Coll Med, Brain Korea 21 Plus Project Med Sci, 50-1 Yonsei Ro, Seoul 03722, South Korea

来源：

STEM CELL RESEARCH | 2022年 / 60卷

基金：

新加坡国家研究基金会;

关键词：

ALPHA-TROPOMYOSIN MUTATION;

D O I：

10.1016/j.scr.2022.102707

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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.

引用

页数：5

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