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 8, also known as Timothy syndrome, an mutation (G406R) occur in exon 8a of CACNA1C 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 | LQT8/Timothy |
| Target Gene | CACNA1C |
| Gene Function | CACNA1C encodes a subunit of the L-type Ca2+ channel. |
| Mutation | G406R |
| Phenotype | Prolonged action potential duration (APD), abnormal Ca2+ transient, delayed afterdepolarisations (DADs) |
| Source | Dermal fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunocytochemistry |
For Research Use Only. Not For Clinical Use.
