Parkinson disease is a slowly progressive neurodegenerative disorder characterized by bradykinesia, rigidity, resting tremor, postural instability, neuronal loss in the substantia nigra, and the presence of neurofibrillary MAPT (tau)-positive and Lewy bodies in some patients. This disease cell model has a V324A mutation in Parkin gene. it belongs to autosomal recessive juvenile Parkinson's disease (PARK2). Generating pluripotent stem cells from fibroblasts, then differentiate into neurons . This disease cell model provides a platform to explore disease mechanisms in PD.
| Specifications | |
|---|---|
| Organ System | Central Nervous System |
| Disease | Parkinson Disease (PD) |
| Target Gene | Parkin (PRAK2) |
| Gene Function | It encodes a component of an E3 ubiquitin ligase involved in mitochondrial homeostasis |
| Mutation | V324A |
| Phenotype | Exhibited abnormal mitochondrial morphology and impaired mitochondrial homeostasis. |
| Source | Fibroblasts |
| Cellular Assays | Immunocytochemistr, Electrophysiology, Electron Microscopy, Western Blotting |
For Research Use Only. Not For Clinical Use.
