Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited life-threatening arrhythmia leading to syncope and sudden cardiac death at a young age. This disease cell model belongs to CPVT1, an autosomal dominant mutations (S406L) occur in the RYR2 gene. Generating pluripotent stem cells from dermal 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 | CPVT1 |
| Target Gene | RYR2 |
| Gene Function | Ryanodine receptor type 2 gene (RYR2) is a mediator of calcium release in the sarcoplasmic reticulum (SR). |
| Mutation | S406L (1217C>T) |
| Phenotype | Increased frequency and duration of Ca2+ sparks |
| Source | Skin fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunohistochemical analysis, confocal immunofluorescence |
For Research Use Only. Not For Clinical Use.
