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
NA00881 DNA from Fibroblast

Description:

FABRY DISEASE
GALACTOSIDASE, ALPHA; GLA

Affected:

Yes

Sex:

Male

Age:

17 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 Lipid Metabolism
Quantity 10 µg
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 No detectable alpha-galactosidase activity; conjuctiva showed lipid deposits in the endothelial cells of the vessel walls; classic phenotype; donor subject is hemizygous for a C>T change at nucleotide 658 in exon 5 of the GLA gene (c.658C>T) resulting in a stop codon [Arg220Ter (R220X)]

Characterizations

back to top
PDL at Freeze 2.81
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-galactosidase According to the submitter, biochemical test results for this subject showed no enzyme activity. EC Number: 3.2.1.22; 0% activity.
 
Gene GLA
Chromosomal Location Xq22
Allelic Variant 1 R220X; FABRY DISEASE
Identified Mutation ARG220TER

Phenotypic Data

back to top
Remarks No detectable alpha-galactosidase activity; conjuctiva showed lipid deposits in the endothelial cells of the vessel walls; classic phenotype; donor subject is hemizygous for a C>T change at nucleotide 658 in exon 5 of the GLA gene (c.658C>T) resulting in a stop codon [Arg220Ter (R220X)]

Publications

back to top
Birket MJ, Raibaud S, Lettieri M, Adamson AD, Letang V, Cervello P, Redon N, Ret G, Viale S, Wang B, Biton B, Guillemot JC, Mikol V, Leonard JP, Hanley NA, Orsini C, Itier JM, A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology Stem cell reports: 2018
PubMed ID: 31378672
 
Welford RWD1, Mühlemann A1, Garzotti M1, Rickert V2, Groenen PMA1, Morand O1, Üçeyler N2, Probst MR1., Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types Human Molecular Genetics: 2018
PubMed ID: 29982630
 
Romeo, Genetic heterogeneity of alpha-galactosidase in Fabry's disease. FEBS Lett27:161 (1972): 1972
PubMed ID: 29982630
 
Romeo G, Migeon BR, Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease. Science170:180-1 1970
PubMed ID: 5466114

External Links

back to top
dbSNP dbSNP ID: 10369
Gene Cards GLA
Gene Ontology GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004557 alpha-galactosidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
NCBI Gene Gene ID:2717
NCBI GTR 300644 GALACTOSIDASE, ALPHA; GLA
301500 FABRY DISEASE
OMIM 300644 GALACTOSIDASE, ALPHA; GLA
301500 FABRY DISEASE
Omim Description ALPHA-GALACTOSIDASE A DEFICIENCY
  ANDERSON-FABRY DISEASE
  ANGIOKERATOMA, DIFFUSE
  CERAMIDE TRIHEXOSIDASE DEFICIENCYGALACTOSIDASE, ALPHA, INCLUDED; GLA, INCLUDED
  FABRY DISEASE
  GLA DEFICIENCY
  HEREDITARY DYSTOPIC LIPIDOSIS
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
  • GM00881 - 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