TY - JOUR
T1 - 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
AU - Meraviglia, Viviana
AU - Cattelan, Giada
AU - De Bortoli, Marzia
AU - Motta, Benedetta Maria
AU - Volpato, Claudia
AU - Frommelt, Laura Sophie
AU - Rauhe, Werner
AU - Di Segni, Marina
AU - Silipigni, Rosamaria
AU - Pramstaller, Peter P.
AU - Rossini, Alessandra
N1 - Funding Information:
This work was supported by the Department of Innovation and Research and University of the Autonomous Province of Bolzano/Bozen. A special thanks to patients that gave consent to participate to this study
Publisher Copyright:
© 2021 The Authors
PY - 2021/8
Y1 - 2021/8
N2 - 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.
AB - 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.
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U2 - 10.1016/j.scr.2021.102466
DO - 10.1016/j.scr.2021.102466
M3 - Article
AN - SCOPUS:85110766846
VL - 55
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 102466
ER -