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 (D307H, also called c.1183G>C) 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 | D307H (c.1183G>C) |
| Phenotype | Abnormal Ca2+ handling, spontaneous EADs and delayed afterdepolarisations (DADs), reduced threshold for SOICR |
| Source | Skin fibroblasts |
| Cellular Assays | Immunofluorescence analysis |
For Research Use Only. Not For Clinical Use.
