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 (c.1488 + 1G> A + c.1252_1488) mutation in PIN1 gene. it belongs to autosomal recessive juvenile Parkinson's disease (PARK6). 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 | PINK1 (PRAK6) |
| Gene Function | Encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. |
| Mutation | c.1488 + 1G> A + c.1252_1488 |
| Phenotype | α-Synuclein accumulation in PD iPSC-Derived mDA Neurons |
| Source | Fibroblasts |
| Cellular Assays | Immunofluorescence, Western Blotting, Genetic Analysis |
For Research Use Only. Not For Clinical Use.
