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生成携带杂合性 FLNC 突变的人诱导多能干细胞系 USFi002-A,用于扩张型心肌病的建模。

Generation of a heterozygous FLNC mutation-carrying human iPSC line, USFi002-A, for modeling dilated cardiomyopathy.

机构信息

Heart Institute, Morsani College of Medicine, University of South Florida, Tampa FL, USA.

Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida, Tampa FL, USA.

出版信息

Stem Cell Res. 2021 May;53:102394. doi: 10.1016/j.scr.2021.102394. Epub 2021 May 12.

Abstract

Dilated Cardiomyopathy (DCM) is one of the main causes of sudden cardiac death and heart failure and is the leading indication for cardiac transplantation worldwide. Mutations in different genes including TTN, MYH7, and LMNA, have been linked to the development of DCM. Here, we generated a human induced pluripotent stem cell (IPSC) line from a DCM patient with a familial history that carries a frameshift mutation in Filamin C (FLNC). The IPSCs show typical morphology of pluripotent cells, expression of pluripotency markers, normal karyotype, and in vitro capacity to differentiate into all three germ layers.

摘要

扩张型心肌病(DCM)是心脏性猝死和心力衰竭的主要原因之一,也是全球范围内心脏移植的主要适应证。包括 TTN、MYH7 和 LMNA 在内的不同基因的突变与 DCM 的发生有关。在这里,我们从一位携带 Filamin C(FLNC)框移突变的家族性 DCM 患者中生成了一个人诱导多能干细胞(iPSC)系。这些 iPSC 表现出多能细胞的典型形态、多能性标记物的表达、正常核型以及体外向三个胚层分化的能力。

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