Description:
GLYCOGEN STORAGE DISEASE II
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Class |
Disorders of Carbohydrate Metabolism |
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
|
White
|
Family Member
|
3
|
Relation to Proband
|
father
|
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 |
|
Gene |
GAA |
Chromosomal Location |
17q25.2-q25.3 |
Allelic Variant 1 |
; GLYCOGEN STORAGE DISEASE TYPE II |
Identified Mutation |
IVS1-2A>G |
Remarks |
Clinically unaffected father of an affected child (GM14057)); donor subject is heterozygous for an A>G transition at position -2 of the acceptor site of intron 1 of the GAA gene (c.-32-2A>G) |
|