ALS is a severe neurodegenerative condition characterized by loss of motor neurons in the spinal cord and brain. This disease cell model has a H517D 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 | H517D |
| Phenotype | Mis-localization of FUS into cytosolic and stress granules under stress conditions, and cellular vulnerability. |
| Source | Fibroblasts |
| Cellular Assays | Immunocytochemistry, High-Content Analysis |
For Research Use Only. Not For Clinical Use.
