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 (N406K, also called 1218C>A) occur in the SNC5A gene. Generating pluripotent stem cells from skin fibroblasts, then differentiate into cardiac myocytes. This disease cell model provides a platform to explore disease mechanisms in human genetic cardiac disorders.
Specifications | |
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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 | N406K (1218C>A) |
Phenotype | Prolonged action potential duration (APD) and Ca2+ transients, EADs |
Source | Skin fibroblasts |
Cellular Assays | Whole-cell patch clamp techniques |
Target Gene | |
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Uniprot ID | Q14524 |
For Research Use Only. Not For Clinical Use.