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 3, an mutation (p.V1763M, also called c.5287G> A) occur in the SNC5A 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 | LQT3/BrS |
| Target Gene | SNC5A |
| Gene Function | SNC5A encodes the α-subunit of the cardiac sodium channel, Nav1.5, and the mutation lead to the sodium current (INa) failing to inactivate properly, thereby increasing APD and prolonging cardiomyocyte repolarisation. |
| Mutation | p.V1763M (c.5287G> A) |
| Phenotype | Faster recovery from INa inactivation, increased INa, prolonged action potential duration (APD) |
| Source | Dermal fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunostaining assay |
| Target Gene | |
|---|---|
| Uniprot ID | Q14524 |
For Research Use Only. Not For Clinical Use.
