GM12931
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 |
Alternate IDs |
GM17108 [GLYCOGEN STORAGE DISEASE II] |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
Black/African American
|
Ethnicity
|
AFRICAN-AMERICAN
|
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 |
|
Remarks |
Clinically unaffected; 1 affected child; affected daughter is GM12932 Fibroblast |
Split Ratio |
1:4 |
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 |
- |
|
|