Familial hypertrophic cardiomyopathy (HCM) is a prevalent hereditary cardiac disorder linked to arrhythmia and sudden cardiac death. This disease cell model belongs to HCM, a mutation (G1061X) occur in the MYPBC3 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 | HCM |
| Target Gene | MYPBC3 |
| Gene Function | MYBPC3 encodes cardiac myosin binding protein-C (cMyBP-C) which is myosin-associated protein regulating myocardial contraction, sarcomere development and intermolecular spatial organization. |
| Mutation | G1061X |
| Phenotype | Increased cell size, spontaneous EADs and delayed afterdepolarisations (DADs) |
| Source | Skin fibroblasts |
| Cellular Assays | Whole-cell patch clamp technique, immunocytochemistry and image analysis, calcium imaging |
| Target Gene | |
|---|---|
| Gene ID | 4607 |
For Research Use Only. Not For Clinical Use.
