Danon disease is a familial cardiomyopathy associated with impaired autophagy due to mutations in the gene encoding lysosomal‐associated membrane protein type 2 (LAMP‐2). This disease cell model belongs to danon, a mutation (A44fs) occur in the LAMP-2 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 | Danon |
| Target Gene | LAMP-2 |
| Gene Function | Lysosomal‐associated membrane protein type 2 (LAMP-2) is a lysosomal membrane glycoprotein that is critical for lysosome–autophagosome fusion. |
| Mutation | A44fs |
| Phenotype | Cellular hypertrophy, abnormal Ca2+ handling, lack of mature autophagic vacuoles, increased levels of oxidative stress and apoptosis |
| Source | Dermal fibroblasts |
| Cellular Assays | Immunostaining assay |
For Research Use Only. Not For Clinical Use.
