NA20091
DNA from Fibroblast
Description:
GLYCOGEN STORAGE DISEASE II
GLUCOSIDASE, ALPHA, ACID; GAA
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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 |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| PDL at Freeze |
5.26 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 1 |
Q58X; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
GLN58TER |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
606800.0014; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
1-BP DEL, 525T; In a girl with the juvenile form of Pompe disease (232300), Hermans et al. (1994) identified compound heterozygosity for 2 mutations in the GAA gene: P545L (606800.0013) and a 1-bp deletion (525delT), resulting in premature termination of the protein at nucleotide positions 658 to 660. |
| Remarks |
Clinically affected; presented at birth with bilateral severe cleft lip and palate, deep sacral dimple, and bilateral hydrocele; hypertrophic cardiomyopathy; hypotonia, head lag, and hepatomegaly noted at age 2 months; deficiency of acid alpha-glucosidase in fibroblasts (0.2 versus control of 31 nmoles substrate hydrolyzed/mg protein); high-resolution chromosomes normal; died at age 14 months; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 172 in exon 2 of the GAA gene [172C>T] resulting in a substitution of a termination codon for glutamine at codon 58 [Gln58Stop(Q58X)] and a second allele has a single nucleotide deletion (threonine) at position 525 in exon 2 of the GAA gene [del525T]. |
| Huie ML, Kasper JS, Arn PH, Greenberg CR, Hirschhorn R, Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop. Am J Med Genet85(1):5-8 1999 |
| PubMed ID: 10377006 |
| dbSNP |
dbSNP ID: 17711 |
| Gene Cards |
GAA |
| Gene Ontology |
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds |
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GO:0004558 alpha-glucosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0005980 glycogen catabolism |
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GO:0006091 energy pathways |
| NCBI Gene |
Gene ID:2548 |
| NCBI GTR |
232300 GLYCOGEN STORAGE DISEASE II; GSD2 |
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606800 GLUCOSIDASE, ALPHA, ACID; GAA |
| OMIM |
232300 GLYCOGEN STORAGE DISEASE II; GSD2 |
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606800 GLUCOSIDASE, ALPHA, ACID; GAA |
| Omim Description |
ACID MALTASE DEFICIENCY; AMD |
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ALPHA-1,4-GLUCOSIDASE DEFICIENCYGLUCOSIDASE, ALPHA, ACID, INCLUDED; GAA, INCLUDED |
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CARDIAC FORM OF GENERALIZED GLYCOGENOSIS |
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CARDIOMEGALIA GLYCOGENICA DIFFUSA |
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GLUCOSIDASE, ACID, ALPHA DEFICIENCY; GAA DEFICIENCY |
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GLYCOGEN STORAGE DISEASE II |
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POMPE DISEASE |
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