ALS is a severe neurodegenerative condition characterized by loss of motor neurons in the spinal cord and brain. This disease cell model has a P56S mutation in VAPB / C gene, this cell model belongs to familial ALS subtype 8 (ALS8). 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 | VAPB / C |
| Gene Function | VAPs are typically ubiquitously expressed and localized to the endoplasmic reticulum and pre-Golgi intermediates |
| Mutation | P56S |
| Phenotype | Loss of function as it leads to a reduced level of interaction of VAPB with some key proteins |
| Source | Fibroblasts |
| Cellular Assays | Immunocytochemistry, Western blot analysis, RT–PCR |
For Research Use Only. Not For Clinical Use.
