Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities. This disease cell model has a mutation (V171L) on APP 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 | APP |
| Gene Function | Encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. |
| Mutation | V717L |
| Phenotype | Increase in the extracellular Aβ42 level and decrease in the intracellular Aβ42 level |
| Source | Fibroblasts |
| Cellular Assays | Immunocytochemistry, Immunoblots, Electrochemiluminescence Assays, Bisulfite Genomic Sequencing, Microarray Analysis for iPSCs |
For Research Use Only. Not For Clinical Use.
