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 (R14del) occur in the PLN 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 | DCM |
| Target Gene | PLN |
| Gene Function | Phospholamban (PLN) is a regulatory protein that controls Ca2+ cycling in cardiomyocytes (CMs). |
| Mutation | R14del |
| Phenotype | Myofibrillar disarray |
| Source | Dermal fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immunocytochemical staining, immunohistochemical analysis |
For Research Use Only. Not For Clinical Use.
