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 (A285V) occur in the DES gene. Generating pluripotent stem cells from primary 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 | DES |
| Gene Function | Desmin (DES), encoded by DES, is a muscle-specific intermediate filament protein that maintains the overall structure and cytoskeletal organization within cardiomyocytes and striated muscle cell. |
| Mutation | A285V |
| Phenotype | Abnormal Ca2+ handling, increased desmin aggregations |
| Source | Primary fibroblasts |
| Cellular Assays | Immunohistological assay, electron microscopy study, immunofluorescence staining |
For Research Use Only. Not For Clinical Use.
