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 1, mutation (G345E, also called G1034A) occur in the KCNQ1 gene. Generating pluripotent stem cells from dermal fibroblasts, then differentiate into cardiac myocytes. This disease cell model is contributed to as a new platform for drug testing.
| Specifications | |
|---|---|
| Organ System | Cardiovascular System |
| Disease | LQT1 |
| Target Gene | KCNQ1 (KVLQT1, Kv7.1) |
| Gene Function | KCNQ1 encodes the repolarizing potassium channel mediating the delayed rectifier Iks current, pore-forming α subunit of the channel generating the slow component of the delayed rectifier potassium current Iks |
| Mutation | G345E (G1034A) |
| Phenotype | Prolonged action potential duration (APD) |
| Source | Dermal fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunostaining |
For Research Use Only. Not For Clinical Use.
