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For Research Use Only. Not For Clinical Use.

STEMOD™ iPSC-derived LQT2 Disease Model (KCNH2, A561V)(MoCVD-ZXY010)

Datasheet

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
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
Target Gene
Gene ID 3757
Uniprot ID Q12809

For Research Use Only. Not For Clinical Use.

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