Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary heart muscle disorder resulting from desmosomal protein mutations. This disease cell model belongs to ARVC, a mutation (K672fs) occur in the PKP2 gene. Generating pluripotent stem cells from fibroblasts, then differentiate into cardiac myocytes. This disease cell model provides a platform to explore disease mechanisms in human genetic cardiac disorders.
| Specifications | |
|---|---|
| Organ System | Cardiovascular System |
| Disease | ARVC |
| Target Gene | PKP2 |
| Gene Function | Plakophilin-2 (PKP2) gene encode plakophilin-2 protein which is expressed in skin and cardiac muscle, where it functions to link cadherins to intermediate filaments in the cytoskeleton. |
| Mutation | K672fs |
| Phenotype | Abnormal plakoglobin nuclear translocation, reduced β-catenin activity, exaggerated lipogenesis and apoptosis |
| Source | Fibroblasts |
| Cellular Assays | Beta-catenin luciferase assay, immunocytochemistry, TUNEL count, lipid-laden cardiomyocyte count, calcium imaging |
For Research Use Only. Not For Clinical Use.
