Cell Lines
SCA28
Publication
L-10182
Identification
- Causal gene(s)
- AFG3L2
- Repeat size or mutation
- c.2167G>A p.V723M c.1847A>G p.Y616C (comp. heterozygous); affected son of L-11388
- Cell type
- Fibroblast
Donor Information
- Donor gender
- male
- Ethnicity
- German/Romanian
- Age at disease onset (years)
- 20
- Age at collection (years)
- 39
Source & Publications
- Originating lab / institution
- University of Lübeck
- Links to publications or public resources
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