Familial hypertrophic cardiomyopathy (HCM) is a prevalent hereditary cardiac disorder linked to arrhythmia and sudden cardiac death. This disease cell model belongs to HCM, an autosomal dominant missense mutation (R663H) occur in the MYH7 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 | HCM |
| Target Gene | MYH7 |
| Gene Function | β-myosin heavy chain gene (MYH7) is a gene encoding a myosin heavy chain beta (MHC-β) isoform (slow twitch) expressed primarily in the heart, but also in skeletal muscles (type I fibers). |
| Mutation | R663H |
| Phenotype | Abnormal Ca2+ handling, disruption of sarcomeric architecture, increased cell size, DADs |
| Source | Dermal fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques, immuofluorescence staining |
For Research Use Only. Not For Clinical Use.
