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
NA00574 DNA from Fibroblast

Description:

GLYCOGEN STORAGE DISEASE I
GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC

Affected:

Yes

Sex:

Male

Age:

25 YR (At Sampling)

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Carbohydrate Metabolism
Quantity 0.050mg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Absent hepatic glucose-6-phosphatase

Characterizations

back to top
Passage Frozen 8
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
Gene G6PC
Chromosomal Location 17q21
Allelic Variant 1 ; GLYCOGEN STORAGE DISEASE Ia; GSD1A
Identified Mutation Gly222Arg
 
Gene G6PC
Chromosomal Location 17q21
Allelic Variant 2 613742.0004; GLYCOGEN STORAGE DISEASE Ia
Identified Mutation GLN347TER; A truncation mutation in exon 5 resulting from a C->T transition and the generation of a stop codon instead of glutamine at codon 347. The predicted Q347X mutant G6Pase is a truncated protein of 346 amino acids, 11 amino acids shorter than the wildtype G6Pase. Site-directed mutagenesis and transient expression assays demonstrated that the mutant protein is devoid of G6Pase activity.

Phenotypic Data

back to top
Remarks Absent hepatic glucose-6-phosphatase

Publications

back to top
Lei KJ, Shelly LL, Lin B, Sidbury JB, Chen YT, Nordlie RC, Chou JY, Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. J Clin Invest95:234-40 1995
PubMed ID: 7814621

External Links

back to top
dbSNP dbSNP ID: 10349
Gene Cards G6PC
Gene Ontology GO:0004346 glucose-6-phosphatase activity
GO:0005215 transporter activity
GO:0005351 sugar porter activity
GO:0005783 endoplasmic reticulum
GO:0005792 microsome
GO:0005977 glycogen metabolism
GO:0005978 glycogen biosynthesis
GO:0006006 glucose metabolism
GO:0006810 transport
GO:0016021 integral to membrane
GO:0016787 hydrolase activity
NCBI Gene Gene ID:2538
NCBI GTR 232200 GLYCOGEN STORAGE DISEASE Ia; GSD1A
613742 GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC
OMIM 232200 GLYCOGEN STORAGE DISEASE Ia; GSD1A
613742 GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC
Omim Description G6PT, FORMERLY, INCLUDED
  GLUCOSE-6-PHOSPHATASE DEFICIENCY
  GLYCOGEN STORAGE DISEASE I
  GLYCOGEN STORAGE DISEASE IaGLUCOSE-6-PHOSPHATASE, CATALYTIC, INCLUDED; G6PC, INCLUDED
  HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE
  HEPATORENAL GLYCOGENOSIS
  VON GIERKE 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
  • GM00574 - 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