GM13306
LCL from B-Lymphocyte
Description:
GLYCOGEN STORAGE DISEASE II
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Class |
Disorders of Carbohydrate Metabolism |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
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 |
W516X; GLYCOGEN STORAGE DISEASE TYPE II |
Identified Mutation |
TRP516TER |
Remarks |
Clinically unaffected father of an affected child (GM13304); donor subject is heterozygous for a G>A transition at nucleotide 1548 in exon 10 of the GAA gene (c.1548G>A) resulting in a stop at codon 516 [Trp516Ter (W516X)] |
Split Ratio |
1:5 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
|