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
Di Segni M
MetadataShow full item record
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 frameshift heterozygous PKP2 mutation c.2569_3018del50. The iPSC line (EURACi004-A) showed the typical morphology of pluripotent cells, possessed normal karyotype and exhibited pluripotency markers and trilineage differentiation potential, including cardiomyogenic capability. Thus, this line can represent a human in vitro model to study the molecular basis of ACM.
Showing items related by title, author, creator and subject.
König E; Volpato CB; Motta BM; Blankenburg H; Picard A; Pramstaller PP; Casella M; Rauhe W; Pompilio G; Meraviglia V; Domingues F; Sommariva E; Rossini A (2017)BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure ...
Sommariva E; Brambilla S; Carbucicchio C; Gambini E; Meraviglia V; Dello Russo A; Farina FM; Casella M; Catto V; Pontone G; Chiesa M; Stadiotti I; Cogliati E; Paolin A; Ouali Alami N; Preziuso C; d'Amati G; Colombo GI; Rossini A; Capogrossi MC; Tondo C; Pompilio G (2015)AIM: Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder mainly due to mutations in desmosomal genes, characterized by progressive fibro-adipose replacement of the myocardium, arrhythmias, and sudden death. It is ...
The arrhythmogenic cardiomyopathy-specific coding and non-coding transcriptome in human cardiac stromal cells Rainer J; Meraviglia V; Blankenburg H; Piubelli C; Pramstaller PP; Paolin A; Cogliati E; Pompilio G; Sommariva E; Domingues FS; Rossini A (2018)BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is a genetic autosomal disease characterized by abnormal cell-cell adhesion, cardiomyocyte death, progressive fibro-adipose replacement of the myocardium, arrhythmias and ...