Article
Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50.
Stem cell research - 1 Oct 2018
Ermon Benedetta, Volpato Claudia B, Cattelan Giada, Silipigni Rosamaria, Di Segni Marina, Cantaloni Chiara, Casella Michela, Pramstaller Peter P, Pompilio Giulio, Sommariva Elena, Meraviglia Viviana, Rossini Alessandra
Abstract excerpt
Arrhythmogenic Cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias and fibro-fatty replacement in the ventricular myocardium. Causative mutations are mainly reported in desmosomal genes, especially in plakophilin2 (PKP2). Here, using a virus-free reprogramming approach, we generated induced pluripotent stem cells (iPSCs) from skin fibroblasts of one ACM patient carrying the...
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