TY  - JOUR
A1  - Janz, Anna
A1  - Zink, Miriam
A1  - Cirnu, Alexandra
A1  - Hartleb, Annika
A1  - Albrecht, Christina
A1  - Rost, Simone
A1  - Klopocki, Eva
A1  - Günther, Katharina
A1  - Edenhofer, Frank
A1  - Ergün, Süleyman
A1  - Gerull, Brenda
T1  - CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM)
JF  - Stem Cell Research
N2  - Arrhythmogenic cardiomyopathy (ACM) is characterized by fibro-fatty replacement of the myocardium, heart failure and life-threatening ventricular arrhythmias. Causal mutations were identified in genes encoding for proteins of the desmosomes, predominantly plakophilin-2 (PKP2) and desmoglein-2 (DSG2). We generated gene-edited knock-out iPSC lines for PKP2 (JMUi001-A-2) and DSG2 (JMUi001-A-3) using the CRISPR/Cas9 system in a healthy control iPSC background (JMUi001A). Stem cell-like morphology, robust expression of pluripotency markers, embryoid body formation and normal karyotypes confirmed the generation of high quality iPSCs to provide a novel isogenic human in vitro model system mimicking ACM when differentiated into cardiomyocytes.
KW  - mutations
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-259846
VL  - 53
ER  -