Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation
Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation
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DOI：
10.1016/j.scr.2022.102793
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发表时间：
2022-04-29
影响因子：
1.2
通讯作者：
Ieda, Masaki
中科院分区：
文献类型：
--
作者：
Shimoda, Yuzuno;Murakoshi, Nobuyuki;Ieda, Masaki
扩张型心肌病（DCM）是一种以左心室扩张和收缩功能障碍为特征的难治性心脏病。LMNA基因编码核纤层蛋白A/ C（核被膜蛋白），是家族性DCM的第二大致病基因。LMNA相关的DCM可能发展为严重的心力衰竭、各种类型的心律失常和预后不良。我们建立了一个人诱导多能干细胞系，来自携带LMNA无义突变的DCM患者。这条线应该是一个有用的资源，阐明疾病机制和发展的基本治疗LMNA相关的DCM。
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.