Coriell Institute for Medical Research
Coriell Institute of Medical Research
  • Request a Quote
  • Donate
  • Login
  • View Cart
Sample Catalog | Custom Services | Core Facilities | Genomic Data Search
  • Biobank
    • NIGMS
    • NINDS
    • NIA
    • NHGRI
    • NEI
    • Allen Cell Collection
    • Rett Syndrome iPSC Collection
    • Autism Research Resource
    • HD Community Biorepository
    • CDC Cell and DNA
    • J. Craig Venter Institute
    • Orphan Disease Center Collection
    • All Biobanks
  • Research
    • Overview
    • Meet Our Scientists
      • Our Faculty
      • Our Scientific Staff
    • Camden Cancer Research Center
    • Epigenetic Therapies SPORE
    • Core Facilities
    • Epigenomics
    • Camden Opioid Research Initiative (CORI)
    • The Issa & Jelinek Lab
    • The Jian Huang Lab
    • The Luke Chen Lab
      • The Lab
      • The Team
      • Publications
    • The Scheinfeldt Lab
    • The Shumei Song Lab
    • The Nora Engel Lab
      • The Lab
      • The Team
      • Publications
    • Publications
  • Services
    • Overview
    • Biobanking Services
      • Core Services
      • Project Management
      • Research Support Services
      • Sample Cataloging
      • Sample Collection Kits
      • Sample Data Management
      • Sample Distribution
      • Sample Management
      • Sample Procurement
      • Sample Storage
    • Bioinformatics and Biostatistics Services
    • Cellular and Molecular Services
      • Biomarker Research Solutions
      • Cell Culture
      • Nucleic Acid Isolation and Quality Control
    • Clinical Trial Support
      • Overview
      • Sample Collection
      • Data Management
      • Sample Processing and QC
      • Storage and Distribution
      • Biomarker Services
      • Data Analaysis
    • Core Facilties
      • Overview
      • Animal and Xenograft
      • Bioinformatics and Biostatistics
      • Cell Imaging
      • CRISPR Gene Engineering
      • Flow Cytometry and Cell Sorting
      • Genomics and Epigenomics
      • iPSC - Induced Pluripotent Stem Cells
      • Organoids
    • Coriell Marketplace
    • Genomic, Epigenomic and Multiomics Services
    • Stem Cells and iPSC Services
      • Core Services
      • Reprogramming
      • Characterization and Quality Control
      • Differentiated Cell Lines
      • iPSC-Derived Organoids
      • iPSC Expansion
      • iPSC Gene Editing
  • Ordering
    • Stem Cells
    • Cell Lines
    • DNA and RNA
    • Featured Products
      • FFPE
      • HMW DNA
    • Genomic Data Search
    • Search by Catalog ID
    • Help
      • Create Account
      • Order Online
      • Ordering FAQ
      • FAQs/Culture Instructions
      • Reference Materials
        • Biobanks
        • NIGMS Repository
        • NHGRI Repository
        • NINDS Repository
        • NIA Repository
        • NIST
        • GeT-RM
      • Secondary Distribution Policies
      • MTA Assurance Form
      • Shipment Policy
      • Contact Customer Service
  • About Us
    • Our History
    • Meet Our Team
    • Meet Our Board
    • Education
      • Science Fair
      • Summer Experience
      • Outreach
      • Research Program Internship
    • Press Room
      • Press Releases
      • Coriell Blog
      • Annual Report
    • Careers
      • Working at Coriell
    • Giving
      • Donate
      • Giving FAQ
    • Contact Us
    • Legal Notice
  • Login View Cart
search submit
NA01935 DNA from Fibroblast

Description:

GLYCOGEN STORAGE DISEASE II
GLUCOSIDASE, ALPHA, ACID; GAA

Affected:

Yes

Sex:

Female

Age:

30 YR (At Sampling)

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Carbohydrate Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race Black/African American
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Adult form; onset of generalized muscle wasting & weakness at age 30; history of amenorrhea & hypertension; normal size and amount of mRNA for GAA, GAA protein detected by antibody, but deficient acid-alpha-1,4 glucosidase (0.14%); donor subject is a compound heterozygote with only one allele expressed: allele one (the silent allele) carries a C>T transition at nucleotide 2560 in exon 18 of the GAA gene (2560C>T) which results in a nonsense codon at amino acid 854 [Arg854Ter (R854X)]; allele two carries three amino acid substitutions: (1) a missense mutation caused by a C>A transversion at nucleotide 1935 in exon 14 (1935C>A) which results in substitution of glutamic acid for aspartic acid at codon 645 [Asp645Glu (D645E)] and accounts for the defects in transport, phosphorylation, and proteolytic processing of the alpha-glucosidase; (2) a G>A transition at nucleotide 2446 (2446G>A) in exon 17 which results in a polymorphism {a substitution of isoleucine for valine at codon 816 [Val816Ile (V816I)]}; and (3) a C>T transition at nucleotide 2780 (2780C>T) in exon 19 which results in a substitution of isoleucine for threonine at codon 927 [Thr927Ile (T927I)].

Characterizations

back to top
PDL at Freeze 5.97
Passage Frozen 5
 
alpha-glucosidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.20; 0.14% activity.
 
Gene GAA
Chromosomal Location 17q25.2-q25.3
Allelic Variant 1 606800.0015; GLYCOGEN STORAGE DISEASE TYPE II
Identified Mutation ARG854TER; Becker et al. [Am. J. Hum. Genet. 62: 991-994 (1998)] found a high frequency of the arg854-to-ter mutation of the GAA gene in compound heterozygous or homozygous state in cases of glycogen storage disease II (232300) in various African populations and in African-American patients.
 
Gene GAA
Chromosomal Location 17q25.2-q25.3
Allelic Variant 2 606800.0010; GLYCOGEN STORAGE DISEASE TYPE II, INFANTILE FORM
Identified Mutation ASP645GLU; Lin and Shieh [Acta Paediat. Sinica 37: 115-121 (1996)] identified a C-to-A transversion at the 5-prime end of exon 14 in the GAA gene (nucleotide 1935) in 4 Chinese patients with the infantile form of Pompe disease (232300) in Taiwan. This change caused substitution of glutamic acid for asparagine-645. The mutation was found in 20 of 25 additional Chinese patients with Pompe disease but in none of 40 normal persons.
 
Gene GAA
Chromosomal Location 17q25.2-q25.3
Allelic Variant 2 V816I; GLYCOGEN STORAGE DISEASE TYPE II
Identified Mutation VAL816ILE
 
Gene GAA
Chromosomal Location 17q25.2-q25.3
Allelic Variant 2 T927I; GLYCOGEN STORAGE DISEASE TYPE II
Identified Mutation THR927ILE

Phenotypic Data

back to top
Remarks Adult form; onset of generalized muscle wasting & weakness at age 30; history of amenorrhea & hypertension; normal size and amount of mRNA for GAA, GAA protein detected by antibody, but deficient acid-alpha-1,4 glucosidase (0.14%); donor subject is a compound heterozygote with only one allele expressed: allele one (the silent allele) carries a C>T transition at nucleotide 2560 in exon 18 of the GAA gene (2560C>T) which results in a nonsense codon at amino acid 854 [Arg854Ter (R854X)]; allele two carries three amino acid substitutions: (1) a missense mutation caused by a C>A transversion at nucleotide 1935 in exon 14 (1935C>A) which results in substitution of glutamic acid for aspartic acid at codon 645 [Asp645Glu (D645E)] and accounts for the defects in transport, phosphorylation, and proteolytic processing of the alpha-glucosidase; (2) a G>A transition at nucleotide 2446 (2446G>A) in exon 17 which results in a polymorphism {a substitution of isoleucine for valine at codon 816 [Val816Ile (V816I)]}; and (3) a C>T transition at nucleotide 2780 (2780C>T) in exon 19 which results in a substitution of isoleucine for threonine at codon 927 [Thr927Ile (T927I)].

Publications

back to top
Raben N, Lee E, Lee L, Hirschhorn R, Plotz PH, Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online. Hum Mutat13(1):83-4 1999
PubMed ID: 10189220
 
Becker JA, Vlach J, Raben N, Nagaraju K, Adams EM, Hermans MM, Reuser AJ, Brooks SS, Tifft CJ, Hirschhorn R, Huie ML, Nicolino M, Plotz PH, The African origin of the common mutation in African American patients with glycogen-storage disease type II. Am J Hum Genet62(4):991-4 1998
PubMed ID: 9529346
 
Chen CS, Bach G, Pagano RE, Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. Proc Natl Acad Sci U S A95:6373-8 1998
PubMed ID: 9600972
 
Adams EM, Becker JA, Griffith L, Segal A, Plotz PH, Raben N, Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans. Hum Mutat10(2):128-34 1997
PubMed ID: 9259196
 
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
 
Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Willemsen R, Oostra BA, Reuser AJ, The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. Biochem J289 ( Pt 3):687-93 1993
PubMed ID: 8094613
 
Hermans MM, Svetkey LP, Oostra BA, Chen YT, Reuser AJ, The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks. Genomics16(1):300-1 1993
PubMed ID: 8486380
 
Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R, Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele. DNA Cell Biol10(9):681-7 1991
PubMed ID: 1684505
 
Zhong N, Martiniuk F, Tzall S, Hirschhorn R, Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele. Am J Hum Genet49:635-45 1991
PubMed ID: 1652892
 
Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R, Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA. Am J Hum Genet47:73-8 1990
PubMed ID: 2112341
 
Reuser AJ, Kroos M, Oude Elferink RP, Tager JM, Defects in synthesis, phosphorylation, and maturation of acid alpha- glucosidase in glycogenosis type II. J Biol Chem260:8336-41 1985
PubMed ID: 3159730
 
Beratis NG, LaBadie GU, Hirschhorn K, Genetic heterogeneity in acid alpha-glucosidase deficiency. Am J Hum Genet35:21-33 1983
PubMed ID: 6401921

External Links

back to top
dbSNP dbSNP ID: 22006
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
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • GM01935 - Fibroblast
Miscellaneous
  • Custom Services

Our mission is to prevent and cure disease through biomedical research.

CONTACT US

CUSTOMER SERVICE
customerservice@coriell.org (800) 752-3805 • (856) 757-4848
Subscribe to our newsletter here

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

Ⓒ 2025 Coriell Institute. All rights reserved.

  • Facebook
  • Linkedin
  • Youtube