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 14, an mutation (D130G, also called c.389A> G) occur in the CALM2 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 | |
|---|---|
| Organ System | Cardiovascular System |
| Disease | LQT15 |
| Target Gene | CALM2 |
| Gene Function | Calmodulin (CaM) is a small protein, encoded by three genes, CALM1 (chr14q31), CALM2 (chr2p21), and CALM3 (chr19q13), with 85% nucleotide sequence homology that encode for completely identical 149 amino acid CaM proteins exerting multiple Ca2+-dependent modulatory roles. |
| Mutation | D130G (c.389A> G) |
| Phenotype | Impaired ICaL inactivation, prolonged action potential duration (APD), Ca2+ cycling disturbances |
| Source | Dermal fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunofluorescent staining |
For Research Use Only. Not For Clinical Use.
