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CRISPR/Cas9 编辑的 PKP2 敲除（JMUi001-A-2）和 DSG2 敲除（JMUi001-A-3）iPSC 系作为致心律失常性心肌病（ACM）的同基因人模型系统。

CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM).

机构信息

Comprehensive Heart Failure Center (CHFC), Department of Cardiovascular Genetics, University Clinics Würzburg, Würzburg, Germany.

Institute of Human Genetics, Biocentre, University of Würzburg, Würzburg, Germany.

出版信息

Stem Cell Res. 2021 May;53:102256. doi: 10.1016/j.scr.2021.102256. Epub 2021 Feb 18.

DOI:10.1016/j.scr.2021.102256
PMID:33640690
Abstract

Arrhythmogenic cardiomyopathy (ACM) is characterized by fibro-fatty replacement of the myocardium, heart failure and life-threatening ventricular arrhythmias. Causal mutations were identified in genes encoding for proteins of the desmosomes, predominantly plakophilin-2 (PKP2) and desmoglein-2 (DSG2). We generated gene-edited knock-out iPSC lines for PKP2 (JMUi001-A-2) and DSG2 (JMUi001-A-3) using the CRISPR/Cas9 system in a healthy control iPSC background (JMUi001-A). Stem cell-like morphology, robust expression of pluripotency markers, embryoid body formation and normal karyotypes confirmed the generation of high quality iPSCs to provide a novel isogenic human in vitro model system mimicking ACM when differentiated into cardiomyocytes.

摘要

致心律失常性心肌病（ACM）的特征是心肌纤维脂肪替代、心力衰竭和危及生命的室性心律失常。在编码桥粒蛋白的基因中发现了致病突变，主要是桥粒斑蛋白-2（PKP2）和桥粒芯糖蛋白-2（DSG2）。我们使用 CRISPR/Cas9 系统在健康对照 iPSC 背景（JMUi001-A）中生成了 PKP2（JMUi001-A-2）和 DSG2（JMUi001-A-3）的基因编辑敲除 iPSC 系。干细胞样形态、多能性标志物的强表达、类胚体形成和正常核型证实了高质量 iPSC 的产生，为分化为心肌细胞时模拟 ACM 的新型同源人类体外模型系统提供了可能。

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