ALS is a severe neurodegenerative condition characterized by loss of motor neurons in the spinal cord and brain. This disease cell model has a R521H mutation in FUS 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 | FUS |
| Gene Function | FUS was first identified as an oncogene and was reported as an ALS-causing gene in 2009, it encodes FUS, functions as a DNA/RNA-binding protein and is involved in multiple aspects of DNA/RNA metabolism |
| Mutation | R521H |
| Phenotype | Most significant pathological change in post mortem tissue is the cytoplasmic mislocalization of FUS. |
| 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.
