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GM11661 Fibroblast

Description:

GLYCOGEN STORAGE DISEASE II
GLUCOSIDASE, ALPHA, ACID; GAA

Affected:

Yes

Sex:

Male

Age:

38 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Carbohydrate Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Ethnicity ITALIAN
Family Member 2
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Abnormal liver function tests; occasional charley-horse in legs during physical activity; morning headaches; intolerance to greasy foods; abdominal cyst; deficient fibroblast and WBC acid-alpha-1,4 glucosidase activity; donor subject is a compound heterozygote: allele one carries a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G); the resulting alternatively spliced transcript has an in frame deletion of exon 2 which contains the initiation codon; allele two carries a deletion of exon 18

Characterizations

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PDL at Freeze 3.58
Passage Frozen 10
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
alpha-glucosidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.20
 
Gene GAA
Chromosomal Location 17q25.2-q25.3
Allelic Variant 1 606800.0006; GLYCOGEN STORAGE DISEASE TYPE II, ADULT FORM
Identified Mutation IVS1AS, T>G, -13; Huie et al. [Hum. Molec. Genet. 3: 2231-2236 (1994)] identified a T-to-G transversion at position -13 of the acceptor site of intron 1 of the GAA gene, resulting in alternatively spliced transcripts with deletion of the first coding exon, exon 2, in patients with the adult onset form of Pompe disease (232300). This mutation was found in 28 of 41 adult onset cases examined. Kroos et al. [J. Med. Genet. 32: 836-837 (1995)] showed this mutation in 38 of 50 heterozygous persons with the adult form of the disease and in 4 of 13 heterozygous patients with juvenile form, but did not find the mutation in children with the infantile form of Pompe disease.
 
Gene GAA
Chromosomal Location 17q25.2-q25.3
Allelic Variant 2 606800.0012; GLYCOGEN STORAGE DISEASE TYPE II
Identified Mutation EX18DEL; Van der Kraan et al. [Biochem. Biophys. Res. Commun. 203: 1535-1541 (1994)] reported that deletion of exon 18 of the GAA gene is a frequent mutation in Pompe disease (232300). Huie et al. [Hum. Molec. Genet. 3: 2231-2236 (1994)] found this mutation in patients with both infantile and adult forms of this disease. Vorgerd et al. [Neurogenetics 1: 205-211 (1998)] found homozygosity for the exon 18 deletion in 2 affected sibs and an unrelated patient with adult type GSD II.

Phenotypic Data

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Remarks Abnormal liver function tests; occasional charley-horse in legs during physical activity; morning headaches; intolerance to greasy foods; abdominal cyst; deficient fibroblast and WBC acid-alpha-1,4 glucosidase activity; donor subject is a compound heterozygote: allele one carries a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G); the resulting alternatively spliced transcript has an in frame deletion of exon 2 which contains the initiation codon; allele two carries a deletion of exon 18

Publications

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La Cognata V, Cavallaro S, Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases Biomedicines10: 2022
PubMed ID: 36009380
 
Aung-Htut MT, Ham KA, Tchan M, Johnsen R, Schnell FJ, Fletcher S, Wilton SD, Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease Scientific reports10:6702 2020
PubMed ID: 32317649
 
Huie ML, Chen AS, Tsujino S, Shanske S, DiMauro S, Engel AG, Hirschhorn R, Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. Hum Mol Genet3:2231-6 1994
PubMed ID: 7881425

External Links

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dbSNP dbSNP ID: 15844
Gene Cards GAA
Gene Ontology GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004558 alpha-glucosidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0005980 glycogen catabolism
GO:0006091 energy pathways
NCBI Gene Gene ID:2548
NCBI GTR 232300 GLYCOGEN STORAGE DISEASE II; GSD2
606800 GLUCOSIDASE, ALPHA, ACID; GAA
OMIM 232300 GLYCOGEN STORAGE DISEASE II; GSD2
606800 GLUCOSIDASE, ALPHA, ACID; GAA
Omim Description ACID MALTASE DEFICIENCY; AMD
  ALPHA-1,4-GLUCOSIDASE DEFICIENCYGLUCOSIDASE, ALPHA, ACID, INCLUDED; GAA, INCLUDED
  CARDIAC FORM OF GENERALIZED GLYCOGENOSIS
  CARDIOMEGALIA GLYCOGENICA DIFFUSA
  GLUCOSIDASE, ACID, ALPHA DEFICIENCY; GAA DEFICIENCY
  GLYCOGEN STORAGE DISEASE II
  POMPE DISEASE

Culture Protocols

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Passage Frozen 10
Split Ratio 1:3
Temperature 37 C
Percent CO2 10%
Percent O2 AMBIENT
Medium Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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