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 (R594Q, also called c.1781G>A) 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/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 | R594Q (c.1781G>A) |
| Phenotype | Prolonged action potential duration (APD), trafficking defect |
| Source | Dermal fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunostaining |
For Research Use Only. Not For Clinical Use.
