Description:
SPINOCEREBELLAR ATAXIA 1; SCA1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
| Alternate IDs |
GM17106 [SPINOCEREBELLAR ATAXIA 1; SCA1] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Black/African American
|
|
Ethnicity
|
AFRICAN-AMERICAN
|
|
Family Member
|
2
|
|
Relation to Proband
|
son
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
At risk; mother is affected |
| Laffita-Mesa JM, Nennesmo I, Paucar M, Svenningsson P, A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72-ALS Movement disorders : official journal of the Movement Disorder Society: 2020 |
| PubMed ID: 33058338 |
|
|