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 (C.922 ~ 1,032 del; P.308 ~ 344 del) 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 | c.922~1,032 del, p.308~344 del |
| Phenotype | Prolonged action potential duration (APD), reduced Iks |
| Source | Dermal fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunostaining |
For Research Use Only. Not For Clinical Use.
