Article
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.N346Lfs*12 mutation.
Stem cell research - 1 Aug 2021
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
Abstract excerpt
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...
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