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
GM00439 Fibroblast

Description:

GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
TRANSLOCATED CHROMOSOME

Affected:

No Data

Sex:

Female

Age:

41 YR (At Sampling)

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Class Disorders of Carbohydrate Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 3
Relation to Proband mother
Confirmation Molecular characterization - other
ISCN 46,X,t(X;3)(Xpter>Xq26::3p12>3pter; 3qter>3p12::Xq26>Xqter)
Species Homo sapiens
Common Name Human
Remarks See GM01029A Lymph; 50% of normal transferase activity in RBCs; 2 affected children; 46,X,t(X;3)(Xpter>Xq26::3p12>3pter;3qter >3p12::Xq26>Xqter); balanced; clinically unaffected mother of GM00440, 00441, 00442, and 01533B; GALT gene mutation is [Gly188Arg (Q188R)]/+

Characterizations

back to top
Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
UDP-glucose--hexose-1-phosphate uridylyltransferase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.7.12; 50% activity.
 
Gene GALT
Chromosomal Location 9p13
Allelic Variant 1 606999.0006; GALACTOSEMIA
Identified Mutation GLN188ARG; Reichardt et al. [Am J Hum Genet 49: 860 (1991)] demonstrated a transition at nucleotide 591 that substituted arginine for glutamine-188. The mutated glutamine is not only highly conserved in evolution, but is also 2 amino acid residues downstream from the active site histidine-proline-histidine triad. Lymphoblasts from subjects homozygous for the GLN188ARG mutation show essentially no detectable GALT activity [Fridovich-Keil and Jinks-Robertson. Proc Nat Acad Sci USA 90: 398 (1993)].
Cytogenetics Chromosome 3: TRANSLOCATION Breakpoint 3p12 t(X;3)3p12
Chromosome X: TRANSLOCATION Breakpoint Xq26 t(X;3)Xq26

Phenotypic Data

back to top
Remarks See GM01029A Lymph; 50% of normal transferase activity in RBCs; 2 affected children; 46,X,t(X;3)(Xpter>Xq26::3p12>3pter;3qter >3p12::Xq26>Xqter); balanced; clinically unaffected mother of GM00440, 00441, 00442, and 01533B; GALT gene mutation is [Gly188Arg (Q188R)]/+

Publications

back to top
Dimri GP, Lee X, Basile G, Acosta M, Scott G, Roskelley C, Medrano EE, Linskens M, Rubelj I, Pereira-Smith O, et al, A biomarker that identifies senescent human cells in culture and in aging skin in vivo. Proc Natl Acad Sci U S A92:9363-7 1995
PubMed ID: 7568133
 
Leach RJ, Chinn R, Reus BE, Hayes S, Schantz L, Dubois B, Overhauser J, Ballabio A, Drabkin H, Lewis TB, et al, Regional localization of 188 sequence tagged sites on a somatic cell hybrid mapping panel for human chromosome 3. Genomics24:549-56 1994
PubMed ID: 7713507
 
Kaffe S, Beratis NG, Hirschhorn K, Greene AE, Coriell LL, Galactosemia. Repository identification Nos. GM-438 to GM-442. Cytogenet Cell Genet17:62-4 1976
PubMed ID: 181209

External Links

back to top
dbSNP dbSNP ID: 16632
Gene Cards GALT
Gene Ontology GO:0003982 UTP-hexose-1-phosphate uridylyltransferase activity
GO:0006012 galactose metabolism
GO:0008108 UDP-glucose-hexose-1-phosphate uridylyltransferase activity
GO:0016740 transferase activity
GEO GEO Accession No: GSM1257724
GEO Accession No: GSM1266990
GEO Accession No: GSM1267067
NCBI Gene Gene ID:2592
NCBI GTR 230400 GALACTOSEMIA I; GALAC1
606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
OMIM 230400 GALACTOSEMIA I; GALAC1
606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
Omim Description GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY
  GALACTOSEMIA
  GALT DEFICIENCYGALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE; GALT, INCLUDED

Culture Protocols

back to top
Passage Frozen 6
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Family
  • 1907
Miscellaneous
  • DNA on Demand
  • 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