Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities. This disease cell model has a mutation (M146V) on PS1 gene , belongs to FAD, a familial early-onset form of Alzheimer disease. Generating pluripotent stem cells from fibroblasts, then differentiate into cortical neurons . This disease cell model provides a platform to explore disease mechanisms in AD.
Specifications | |
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Organ System | Central Nervous System |
Disease | Alzheimer's Disease (AD) |
Target Gene | PSEN1 |
Gene Function | Presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. |
Mutation | M146V |
Phenotype | Threefold increase in secreted Aβ42:40 ratio in homozygous and twofold increase in heterozygous PSEN1M146V mutant cells |
Source | Fibroblasts |
Cellular Assays | Immunocytochemistry, FACS, Amyloid-β measurements |
For Research Use Only. Not For Clinical Use.