Spinocerebellar ataxia (SCA) is a group of hereditary ataxic neurodegenerative disorders without effective treatment or cure. The induced pluripotent stem cell model from fibroblasts harbors 20-23 CAG repeats according in CACNA1A gene, then differentiate into Purkinje cell, belongs to subtype SCA6. SCA6 is an autosomal-dominant disease characterized by the loss of Purkinje cells, the sole output neurons of the cerebellar cortex. This disease model provides a platform to explore disease mechanisms in SCA.
| Specifications | |
|---|---|
| Organ System | Central Nervous System |
| Disease | Spinocerebellar Ataxia (SCA) |
| Target Gene | CACNA1A |
| Gene Function | Encodes Cav2.1, α1A subunit of P/Q-type calcium channel |
| Mutation | CAG expanded repeat(8–14 in healthy, 20–23 in the patients) |
| Phenotype | Purkinje cells show an abnormal morphology with irregularly shaped nuclei and swelling of dendritic arbors |
| Source | Fibroblasts |
| Cellular Assays | Immunocytochemistry, Morphology and fluorescent |
For Research Use Only. Not For Clinical Use.
