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 (S18fs) occur in the LMNA/C 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 | LMNA/C |
| Gene Function | Lamin A and C originate through alternative splicing of the same gene and only differ in the carboxy-terminal domain. |
| Mutation | S18fs |
| Phenotype | Increased apoptosis and senescence, altered nuclear architecture |
| Source | Skin fibroblasts |
| Cellular Assays | Immuofluorescence analysis |
| Target Gene | |
|---|---|
| Gene ID | 4000 |
For Research Use Only. Not For Clinical Use.
