ALS is a severe neurodegenerative condition characterized by loss of motor neurons in the spinal cord and brain. This disease cell model has a L144FVX mutation in SOD1 gene. Generating pluripotent stem cells from fibroblasts, then differentiate into motor neurons . This disease cell model provides a platform to explore disease mechanisms in ALS.
| Specifications | |
|---|---|
| Organ System | Central Nervous System |
| Disease | Amyotrophic Lateral Sclerosis (ALS) |
| Target Gene | SOD1 |
| Gene Function | The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. |
| Mutation | L144FVX |
| Phenotype | Loss of large motor neurons in the anterior horns associated with the frequent appearance of cord-like swollen, partially SOD 1- and ubiquitin-immunopositive axons. |
| Source | Fibroblasts |
| Cellular Assays | Immunocytochemistry, Patch-clamp experiments, Real-time PCR and sequence analysis, Western blotting and ELISA |
For Research Use Only. Not For Clinical Use.
