3 – National Ataxia Foundation

National Ataxia Foundation

Identification

Causal gene(s): ATXN7
Repeat size or mutation: 65/10 CAG
Cell type: hiPSC

Donor Information

Donor gender: female
Age at disease onset (years): 38
Age at collection (years): 25

Source & Publications

Originating lab / institution: University of Califorania
Links to publications or public resources: Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease - PubMed

Increased nuclear import characterizes aberrant nucleocytoplasmic transport in neurons from patients with spinocerebellar ataxia type 7 - PubMed

National Ataxia Foundation

Twenty Twenty-Five

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