ALS is a severe neurodegenerative condition characterized by loss of motor neurons in the spinal cord and brain. This disease cell model has a M337V mutation in TARDBP gene. it belongs to familial ALS. 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 | TARDBP |
Gene Function | TDP-43 encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and TDP-43 is involved in multiple steps of RNA metabolism, including transcription, splicing, and transport of mRNA |
Mutation | G298S |
Phenotype | Mutant neurons had elevated levels of soluble and detergent-resistant TDP-43 protein, decreased survival in longitudinal studies, and increased vulnerability to antagonism of the PI5K pathway. |
Source | Fibroblasts |
Cellular Assays | Immunocytochemical analysis, Immunoprecipitation |
For Research Use Only. Not For Clinical Use.