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 (P631fs/33, also called 1893delC) occur in the KCNQ1 gene. Generating pluripotent stem cells from dermal 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 | 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 | 1893delC (P631fs/33) |
| Phenotype | Prolonged field potential duration (FPD), trafficking defect |
| Source | Dermal fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunohisto-chemistry, on-chip multi-electrode array system |
For Research Use Only. Not For Clinical Use.
