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 (D175N) occur in the TPM1 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 | TPM1 |
| Gene Function | Tropomyosin alpha-1 chain is a protein that in humans is encoded by the TPM1 gene, which is a member of the tropomyosin (Tm) family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. |
| Mutation | D175N |
| Phenotype | Increased cell size, spontaneous EADs and delayed afterdepolarisations (DADs), abnormal Ca2+ transient |
| Source | Skin fibroblasts |
| Cellular Assays | Whole-cell patch clamp technique, immunocytochemistry and image analysis, calcium imaging |
For Research Use Only. Not For Clinical Use.
