Jervell and Lange-Nielsen syndrome (JLNS) is one of the most severe life-threatening cardiac arrhythmias. This disease cell model belongs to long-QT syndrome type 1, mutation (E160fs, also called c.478-2A>T) occur in the KCNQ1 gene. Generating pluripotent stem cells from 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/JLNS |
| 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 | E160fs (c.478-2A>T) |
| Phenotype | Reduced or absent IKs, prolonged action potential duration (APD) and field potential duration (FPD) |
| Source | Fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunofluorescence analysis, confocal images, western blot analysis |
For Research Use Only. Not For Clinical Use.
