Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation

携带 LMNA 无义突变的扩张型心肌病患者体内产生的人类诱导性多能干细胞系

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作者:Yuzuno Shimoda, Nobuyuki Murakoshi, Haruka Mori, DongZhu Xu, Kazuko Tajiri, Yasuko Hemmi, Iori Sato, Michiya Noguchi, Yukio Nakamura, Yohei Hayashi, Masaki Ieda

Abstract

Dilated cardiomyopathy (DCM) is a refractory heart disease characterized by dilation of the left ventricle and systolic dysfunction. LMNA, the gene encoding lamin A/C (a nuclear envelope protein), is the second leading causative gene associated with familial DCM. LMNA-related DCM is likely to develop severe heart failure, various types of arrhythmias, and poor prognosis. We established a human induced pluripotent stem cell line, derived from a patient with DCM carrying a nonsense mutation in LMNA. This line should be a useful resource for elucidating disease mechanisms and developing fundamental treatments for LMNA-related DCM.

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