Generation and characterization of three human induced pluripotent stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three different individuals of the same family with arrhythmogenic cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs12 mutation

• Published in: Stem cell research Vol. 55; p. 102466
• Main Authors: Meraviglia, Viviana, Cattelan, Giada, De Bortoli, Marzia, Motta, Benedetta Maria, Volpato, Claudia, Frommelt, Laura Sophie, Rauhe, Werner, Di Segni, Marina, Silipigni, Rosamaria, Pramstaller, Peter P., Rossini, Alessandra
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01.08.2021; Elsevier
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2021.102466

Arrhythmogenic Cardiomyopathy (ACM) is a genetically based cardiomyopathy associated with ventricular arrhythmias and fibro-fatty substitution of cardiac tissue. It is characterized by incomplete penetrance. We generated human iPSCs by episomal reprogramming of blood cells from three members of the same family: the proband, affected by ACM and carrying the heterozygous plakophillin2 p.N346Lfs*12 mutation, one asymptomatic carrier of the same mutation and one apparently healthy control. hiPSCs were characterized according to standard protocols including karyotyping, pluripotency marker expression and differentiation towards the three germ layers. These hiPSC lines can be used to study the mechanisms of ACM incomplete penetrance in vitro.