Generation of an arrhythmogenic right ventricular cardiomyopathy-patient-derived iPS cell line with PKP2 and AKAP9...

We have established an iPSC cell line carrying mutations in Plakophillin 2 (PKP2) and the A-kinase anchor protein 9 (AKAP9). Plakophilin 2 is an important protein of desmosomes, facilitating cell attachment and tissue strength. Its absence/mutation is associated with impaired cell adhesion and intracellular processes including calcium cycling and actin rearrangement. AKAP9, together with potassium channels and other enzymes, regulates cardiac repolarization. Mutations in both proteins are associated with arrhythmic cardiomyopathy, making this a valuable resource for the purposes of disease modeling and anti-arrhythmia drug testing.