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建立一个患有扩张型心肌病的个体患者诱导多能干细胞系(ZZUNEUi026-A),该患者携带杂合性黏连蛋白(c.625A>T)突变。

Establishment of a human iPSC (ZZUNEUi026-A) from a dilated cardiomyopathy patient carrying heterozygous Vinculin (c. 625A > T) mutant.

机构信息

Department of Cardiology, Hami Central Hospital, Hami, Xinjiang 839000, China; Henan Key Laboratory of Hereditary Cardiovascular Diseases, Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

Henan Key Laboratory of Hereditary Cardiovascular Diseases, Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

出版信息

Stem Cell Res. 2022 Jul;62:102812. doi: 10.1016/j.scr.2022.102812. Epub 2022 May 10.

DOI:10.1016/j.scr.2022.102812
PMID:35567849
Abstract

Dilated cardiomyopathy (DCM) is defined by left ventricular (or biventricular dilation) and systolic dysfunction, which eventually develops into congestive heart failure and arrhythmia. Vinculin is a membrane-associated protein, which functions to transmit contractile force. Defects in vinculin have been reported to be associated with DCM and hypertrophic cardiomyopathy. A human induced pluripotent stem cell (iPSC) line (ZZUNEUi026-A) was generated from a DCM patient carrying heterozygous Vinculin mutant (c.A625 > T; p.Met209 > Leu). The cell line was derived from peripheral blood mononuclear cells by nonintegrative Sendai virus. ZZUNEUi026-A showed pluripotency markers and normal karyotype, and it could differentiate into three germ layers in vitro.

摘要

扩张型心肌病(DCM)的定义为左心室(或双心室扩张)和收缩功能障碍,最终发展为充血性心力衰竭和心律失常。黏着斑蛋白是一种膜相关蛋白,其功能是传递收缩力。黏着斑蛋白的缺陷已被报道与 DCM 和肥厚型心肌病有关。从携带黏着斑突变(c.A625>T;p.Met209>Leu)的 DCM 患者外周血单核细胞中产生了一个人类诱导多能干细胞(iPSC)系(ZZUNEUi026-A)。该细胞系通过非整合性仙台病毒从外周血单核细胞中产生。ZZUNEUi026-A 显示出多能性标记物和正常核型,并能在体外分化为三个胚层。

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