A heterozygous TTN (c. 79,684C>T) mutant human induced pluripotent stem cell line (ZZUNEUi023-A) generated from a Kazakh patient with dilated cardiomyopathy

源自一名患有扩张型心肌病的哈萨克斯坦患者杂合 TTN(c. 79,684C>T)突变人类诱导多能干细胞系 (ZZUNEUi023-A)

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作者:Xiaowei Li, Wu Wei, Xiaoying Li, Ling Qi, Shan Lu, Hua Wei, Yangyang Liu, Jianzeng Dong, Chunyang Zhang, Tao Lin

Abstract

Dilated cardiomyopathy (DCM) is a nonischaemic heart muscle disease with structural and functional myocardial abnormalities. TTN truncating mutations are a common cause of DCM, occurring in ∼25% of familial cases of DCM and in 18% of sporadic cases. In this study, we generated a human induced pluripotent stem cell line ZZUNEUi023-A from peripheral blood mononuclear cells of a Kazakh DCM patient with the p. Arg26562Ter (c. 79684C>T) mutation in TTN using non-integrative Sendai virus. This cell line expressed pluripotency markers, showed normal male karyotype and could differentiate into all three germ layers in vitro.

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