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, mutation (A422T, also called 1264G>A) occur in the KCNH2 gene. Generating pluripotent stem cells from dermal fibroblasts, then differentiate into cardiac myocytes. This disease cell model is contributed to as a new platform to study pathophysiological mechanisms and drug testing.
Specifications | |
---|---|
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 | A422T (1264G>A) |
Phenotype | Reduced IKs, prolonged action potential duration (APD) and Ca2+ transients |
Source | Skin fibroblasts |
Cellular Assays | Whole-cell patch clamp techniques |
For Research Use Only. Not For Clinical Use.