Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities. This disease cell model has a mutation (N141I) on PS2 gene , belongs to FAD, a familial early-onset form of Alzheimer disease. Generating pluripotent stem cells from fibroblasts, then differentiate into neurons . This disease cell model provides a platform to explore disease mechanisms in AD.
| Specifications | |
|---|---|
| Organ System | Central Nervous System |
| Disease | Alzheimer's Disease (AD) |
| Target Gene | PSEN2 |
| 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 | N141I |
| Phenotype | Results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio; loss of function as calcium-leak channel; results in calcium overload in the endoplasmic reticulum; increased mitochondrion-endoplasmic reticulum membrane tethering resulting in increased calcium transfer to mitochondria. |
| Source | Fibroblasts |
| Cellular Assays | Immunofluorescence staining, Microarray analysis, Quantitation ELISA, Immunoblot analysis |
For Research Use Only. Not For Clinical Use.
