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 2, an missense mutation (A561V) occur in the KCNH2 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 | LQT2 |
Target Gene | KCNH2 |
Gene Function | KCNH2, also known as human Ether-a-go-go Related Gene and HERG, forms the α-subunit of the rapid-acting inward rectifying potassium (Ikr) channel. |
Mutation | A561V |
Phenotype | Reduced IKs, prolonged action potential duration (APD) and field potential duration (FPD), trafficking defect |
Source | Skin fibroblasts |
Cellular Assays | Whole-cell patch clamp techniques, immunostaining |
For Research Use Only. Not For Clinical Use.