ALS is a severe neurodegenerative condition characterized by loss of motor neurons in the spinal cord and brain. This disease cell model has a P525L 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 | |
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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 | P525L |
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.