Meraviglia Viviana, Arendzen Christiaan H, Tok Merve, Freund Christian, Maione Angela Serena, Sommariva Elena, Bellin Milena
Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, The Netherlands.
Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, The Netherlands; Leiden University Medical Center hiPSC Hotel, Leiden, The Netherlands.
Stem Cell Res. 2020 Jul;46:101835. doi: 10.1016/j.scr.2020.101835. Epub 2020 May 5.
Arrhythmogenic Cardiomyopathy (ACM) is a rare inherited heart muscle disease characterised by progressive fibro-fatty replacement of the ventricular myocardium leading to life-threatening arrhythmias. We generated human induced pluripotent stem cells (hiPSCs) from a patient affected by ACM and carrying the heterozygous c.2013delC (p.K672Rfs) PKP2 mutation and then corrected the mutation using CRISPR/Cas9 technology. Both hiPSC lines expressed pluripotency markers, maintained a normal karyotype, and differentiated into derivatives of the three germ layers. This isogenic hiPSC pair represents a genetically controlled system to study the role of the c.2013delC PKP2 mutation in vitro.
致心律失常性心肌病（ACM）是一种罕见的遗传性心肌疾病，其特征是心室心肌进行性纤维脂肪替代，导致危及生命的心律失常。我们从一名患有ACM且携带杂合子c.2013delC（p.K672Rfs）PKP2突变的患者身上获取了人诱导多能干细胞（hiPSC），然后使用CRISPR/Cas9技术纠正了该突变。这两个hiPSC系均表达多能性标志物，保持正常核型，并分化为三个胚层的衍生物。这一对同基因hiPSC代表了一个基因可控系统，用于在体外研究c.2013delC PKP2突变的作用。
