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 triplication of the SNCA genomic locus. Generating pluripotent stem cells from fibroblasts, then differentiate into DA neurons . This disease cell model provides a platform to explore disease mechanisms in PD.
Specifications | |
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Organ System | Central Nervous System |
Disease | Parkinson Disease (PD) |
Target Gene | SNCA |
Gene Function | SNCA may serve to integrate presynaptic signaling and membrane trafficking. |
Mutation | SNCA_Tri |
Phenotype | Elevated levels of α-Syn protein, decreased GABAergic and dopaminergic neurons differentiation, decreased neurite outgrowth and impaired electrophysiology compared to controls. |
Source | Fibroblasts |
Cellular Assays | Immunofluorescence, Real-time PCR analysis, Immunoblot analysis, Electrophysiology, Neurite tracing |
For Research Use Only. Not For Clinical Use.