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 (R420Q, also called c.1378G>A) occur in the RYR2 gene. Generating pluripotent stem cells from skin 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 | R420Q (c.1378G>A) |
| Phenotype | Abnormal Ca2+ handling, immature phenotype |
| Source | Skin fibroblasts |
| Cellular Assays | Immunofluorescence analysis |
For Research Use Only. Not For Clinical Use.
