Long-QT syndromes are heritable diseases associated with prolongation of the QT interval on an electrocardiogram and a high risk of sudden cardiac death due to ventricular tachyarrhythmia. This disease cell model belongs to long-QT syndrome type 2, mutation (A614V, also called A614V) occur in the KCNH2 gene. Generating pluripotent stem cells from dermal fibroblasts, then differentiate into cardiac myocytes. This disease cell model is contributed to as a new platform to study pathophysiological mechanisms and drug testing.
| Specifications | |
|---|---|
| Organ System | Cardiovascular System |
| Disease | LQT2 |
| Target Gene | KCNH2 |
| Gene Function | KCNH2, also known as human Ether-a-go-go Related Gene and HERG, forms the α-subunit of the rapid-acting inward rectifying potassium (Ikr) channel. |
| Mutation | A614V (C821T) |
| Phenotype | Prolonged action potential duration (APD), reduced IKr |
| Source | Dermal fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunostaining |
For Research Use Only. Not For Clinical Use.
