ALS is a severe neurodegenerative condition characterized by loss of motor neurons in the spinal cord and brain. This disease cell model has a A GGGGCC (G4C2) hexanucleotide repeat expansion (HRE) in C9ORF72 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 | C9orf72 |
| Gene Function | Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy |
| Mutation | G4C2 HRE(GGGGCC hexanucleotide repeat expansion (HRE)) |
| Phenotype | Disrupts nucleocytoplasmic transport |
| Source | Fibroblasts |
| Cellular Assays | Immunofluorescence, Immunofluorescence, RNA Fluorescent in situ Hybridization (FISH) |
For Research Use Only. Not For Clinical Use.
