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 Exon 3, 5 homozygous deletions 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 | |
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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 | Exon 3, 5 homozygous deletions |
Phenotype | Exhibited abnormal mitochondrial morphology and impaired mitochondrial homeostasis. |
Source | Fibroblasts |
Cellular Assays | Immunocytochemistry and quantitative image analysis |
For Research Use Only. Not For Clinical Use.