Key result
New iPSC line with PKP2 and AKAP9 mutations enables ARVC disease modeling and drug testing.
Why the study?
Mutations in both PKP2 and AKAP9 are associated with arrhythmic cardiomyopathy, creating a need for a cellular resource for disease modeling and anti-arrhythmia drug testing.
No immediate clinical implications; leaves open whether this iPSC model advances arrhythmogenic cardiomyopathy therapies.
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.
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Beckerová et al. (2026) studied Arrhythmogenic right ventricular cardiomyopathy. iPSC cell line with PKP2 and AKAP9 mutation (MUNIi022-A) was evaluated. An iPSC cell line (MUNIi022-A) carrying mutations in PKP2 and AKAP9 was established from a patient with arrhythmogenic right ventricular cardiomyopathy for disease modeling and drug testing.
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