Generation of a human induced pluripotent stem cell line YCMi004-A from a patient with dilated cardiomyopathy carrying a protein-truncating mutation of the Titin gene and its differentiation towards cardiomyocytes

从携带 Titin 基因蛋白截短突变的扩张型心肌病患者体内产生人类诱导性多能干细胞系 YCMi004-A 及其向心肌细胞的分化

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作者:Sun-Ho Lee, Jaewon Oh, Seung-Tae Lee, Dongju Won, Sangwoo Kim, Hyo-Kyoung Choi, Seok-Jun Kim, Hyunho Han, Minjae Yoon, Jong Rak Choi, Ho-Geun Yoon, Sahng Wook Park, Seok-Min Kang, Seung-Hyun Lee

Abstract

Dilated cardiomyopathy (DCM) is a heart muscle disease that causes heart failure and is the leading cause for heart transplantation. It is a heart muscle disease resulted from a variety of genetics, toxic, metabolic, and infectious causes. One of the most prevalent genetic causes of DCM is a protein-truncating variant in the Titin gene (TTNtv). We have generated a human-induced pluripotent stem cell (hiPSC) line from patients who underwent heart transplantation due to DCM carrying a TTNtv mutation (c.70051C > T, p.Arg23351Ter) at the age of 20. The generated hiPSCs showed normal karyotype (46, XY) and expression of pluripotency markers, and were differentiated towards cardiomyocytes successfully.

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