Identical homozygous rare variant in TECRL gene lead to cardiac arrest, stress-induced atrial and ventricular tachycardia, and QT prolongation on adrenergic stimulation. This disease cell model belongs to TECRL, a mutation (331+1G>A) occur in the TECRL 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 | TECRL |
| Target Gene | TECRL |
| Gene Function | TECRL, a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. |
| Mutation | c.331+1G>A |
| Phenotype | Abnormal Ca2+ handling, prolonged action potential duration (APD) |
| Source | Dermal fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immuofluorescence staining |
For Research Use Only. Not For Clinical Use.
