Dilated cardiomyopathy (DCM) is one of the most common cardiomyopathy subtypes with clinically characteristic by ventricular dilation and impaired contraction. This disease cell model belongs to DCM, a mutation (R173W) occur in the TNNT2 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 | DCM |
| Target Gene | TNNT2 |
| Gene Function | Cardiac troponin T (cTnT) is one of the 3 subunits of the troponin complex (Troponin T, C, and I) that regulate the sarcomeric thin filament activity and muscle contraction in cardiomyocytes (CMs). |
| Mutation | R173W |
| Phenotype | Abnormal Ca2+ handling, decreased contractility, myofibrillar disarray, upregulation of PDE3A/PDE2A |
| Source | Skin fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunocytochemical staining, microelectrode arrays (MEAs) |
For Research Use Only. Not For Clinical Use.
