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 (N996I, also called c.2987A>T) 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 | N996I (c.2987A>T) |
| Phenotype | Prolonged action potential duration (APD) and field potential duration (FPD), reduced IKr, Trafficking defect |
| Source | Dermal fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunostaining |
For Research Use Only. Not For Clinical Use.
