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 (F1473C) 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 | |
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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 | F1473C |
Phenotype | Increased INa, prolonged action potential duration (APD) |
Source | Dermal fibroblasts |
Cellular Assays | Whole-cell patch clamp techniques, immunostaining assay |
Target Gene | |
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Uniprot ID | Q14524 |
For Research Use Only. Not For Clinical Use.