Pompe disease (also known as glycogen storage disease type II) is caused by autosomal recessive mutations in the acid alpha-glucosidase (GAA) gene, which encodes GAA. This disease cell model belongs to pompe, a mutation (D645E) occur in the GAA 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 | Pompe |
| Target Gene | GAA |
| Gene Function | Acid alpha-glucosidase (GAA), also called α-1,4-glucosidase and acid maltase, is an enzyme that helps to break down glycogen in the lysosome. |
| Mutation | D645E (1935C>A) |
| Phenotype | Reduced lysosomal GAA activity, lysosomal glycogen accumulation |
| Source | Dermal fibroblasts |
| Cellular Assays | Electron microscopy, microarray analysis, immuofluorescence staining |
For Research Use Only. Not For Clinical Use.
