MJD2-2,9 – National Ataxia Foundation

National Ataxia Foundation

Identification

Research Resource Identifier (RRID): CVCL_W572, CVCL_W573
Causal gene(s): ATXN3
Repeat size or mutation: 74/21 CAG
Cell type: hiPSC

Donor Information

Donor gender: male
Age at disease onset (years): 30
Age at collection (years): 40

Source & Publications

Originating lab / institution: University of Bonn and Hertie Foundation
Links to publications or public resources: Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease - PubMed

Upregulation of miR-370 and miR-543 is associated with reduced expression of heat shock protein 40 in spinocerebellar ataxia type 3 - PubMed

National Ataxia Foundation

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