GM14047
LCL from B-Lymphocyte
Description:
GLYCOGEN STORAGE DISEASE II
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Family Member
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3
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 1 |
606800.0002; GLYCOGEN STORAGE DISEASE TYPE II, INFANTILE FORM |
| Identified Mutation |
MET318THR; In a case of infantile-onset glycogen storage disease type II (cell line GM00244), Zhong et al. [Am J Hum Genet 49:635 (1991)] found a T-to-C transition at nucleotide 953 of the GAA gene, which predicted a methionine-to-threonine subsitution at residue 318 of the enzyme. This missense mutation was not detected in 37 additional GAA-deficient chromosomes. The patient was a genetic compound with the second allele expressing almost no mRNA. |
| Remarks |
Clinically unaffected father of an affected child; donor subject is heterozygous for a T>C transition at nucleotide 953 in exon 5 of the GAA gene (c.953T>C) resulting in the substitution of threonine for methionine at codon 318 [Met318Thr (M318T)] |
| 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 |
- |
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