Refine
Has Fulltext
- yes (13) (remove)
Is part of the Bibliography
- yes (13)
Document Type
- Journal article (9)
- Doctoral Thesis (4)
Keywords
- mutations (13) (remove)
Institute
- Institut für Humangenetik (5)
- Pathologisches Institut (2)
- Theodor-Boveri-Institut für Biowissenschaften (2)
- Deutsches Zentrum für Herzinsuffizienz (DZHI) (1)
- Frauenklinik und Poliklinik (1)
- Institut für Anatomie und Zellbiologie (1)
- Institut für Klinische Neurobiologie (1)
- Institut für Virologie und Immunbiologie (1)
- Kinderklinik und Poliklinik (1)
- Lehrstuhl für Orthopädie (1)
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.