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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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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 |
| |
| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 1 |
; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
1195-8G>A |
| |
| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
251insC |
| Remarks |
Clinically affected; adult onset; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1195-8 of the GAA gene (c.1195-8G>A); the second allele has a 1 bp insertion at nucleotide 251 (c.251insC); cross-reactive immunological material (CRIM)-positive status confirmed by Western blot and GAA sequencing analyses(PMID:24044919). |
| Z. Wang, et al, A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. Mol Genet Metab. 2013 Aug 29. pii: S1096-7192(13)00300-4. doi: 10.1016/j.ymgme.2013.08.010. [Epub ahead of print]: 2013 |
| PubMed ID: 24044919 |
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