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

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.

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

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