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 CPVT2, an autosomal recessive mutations (G112X) occur in the CASQ2 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 | CPVT2 |
| Target Gene | CASQ2 |
| Gene Function | Calsequestrin-2 gene (CASQ2) encodes a calcium-binding protein also located in the SR. |
| Mutation | G112X |
| Phenotype | Delayed afterdepolarisations (DADs) upon adrenergic stimulation |
| Source | Skin fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immuofluorescence analysis |
For Research Use Only. Not For Clinical Use.
