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 heterozygous missense mutation (R636S) occur in the RBM20 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 | RBM20 |
| Gene Function | RNA-binding motif protein 20 (RBM20) is a spliceosome protein induced during early cardiogenesis. |
| Mutation | R636S |
| Phenotype | Abnormal Ca2+ handling, disruption of sarcomeric architecture |
| Source | Dermal fibroblasts |
| Cellular Assays | Microcontact printing, immunostaining assay |
For Research Use Only. Not For Clinical Use.
