Fabry disease (FD), a rare X-linked α-galactosidase A deficiency, causes progressive lysosomal accumulation of globotriaosylceramide (GL-3) in a variety of cell types. This disease cell model belongs to FD, a mutation (R220X) occur in the GLA gene. Generating pluripotent stem cells from 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 | FD |
| Target Gene | GLA |
| Gene Function | Alpha-galactosidase (α-GAL) is a glycoside hydrolase enzyme that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. |
| Mutation | R220X |
| Phenotype | Lysosomal accumulation of GL-3, lysosome enlargement and disorganized contractile fibres |
| Source | Primary fibroblasts |
| Cellular Assays | Immunostaining assay |
For Research Use Only. Not For Clinical Use.
