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
GM09118 Fibroblast

Description:

GYRATE ATROPHY OF CHOROID AND RETINA; GACR

Affected:

Yes

Sex:

Female

Age:

37 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
Disorders of the Urea Cycle
Class Disorders of Amino Acid Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 2
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Pyridoxine responsive; approximately 6% of control fibroblast ornithine aminotransferase activity; not of Finnish extraction; marked myopia; abnormal electroretinography & electro-oculography; similarly affected sister

Characterizations

back to top
Passage Frozen 17
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
ornithine aminotransferase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.6.1.13; 6% activity.
 

Phenotypic Data

back to top
Remarks Pyridoxine responsive; approximately 6% of control fibroblast ornithine aminotransferase activity; not of Finnish extraction; marked myopia; abnormal electroretinography & electro-oculography; similarly affected sister

Publications

back to top
Wirtz MK, Kennaway NG, Weleber RG, Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina. J Inherit Metab Dis8:71-4 1985
PubMed ID: 3939534
 
Weleber RG, Wirtz MK, Kennaway NG, Gyrate atrophy of the choroid and retina: clinical and biochemical heterogeneity and response to vitamin B6. Birth Defects Orig Artic Ser18:219-30 1982
PubMed ID: 7171757
 
Weleber RG, Kennaway NG, Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina. Ophthalmology88:316-24 1981
PubMed ID: 6789268
 
Kennaway NG, Weleber RG, Buist NR, Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6. Am J Hum Genet32:529-41 1980
PubMed ID: 7395865

External Links

back to top
dbSNP dbSNP ID: 11224
Gene Ontology GO:0004587 ornithine-oxo-acid transaminase activity
GO:0005759 mitochondrial matrix
GO:0006520 amino acid metabolism
GO:0006591 ornithine metabolism
GO:0007601 visual perception
GO:0016740 transferase activity
GO:0030170 pyridoxal phosphate binding
NCBI Gene Gene ID:4942
NCBI GTR 258870 GYRATE ATROPHY OF CHOROID AND RETINA; GACR
OMIM 258870 GYRATE ATROPHY OF CHOROID AND RETINA; GACR
Omim Description HYPERORNITHINEMIA WITH GYRATE ATROPHY OF CHOROID AND RETINA; HOGA
  OAT DEFICIENCY
  ORNITHINE AMINOTRANSFERASE DEFICIENCY
  ORNITHINE AMINOTRANSFERASE-LIKE 3; OATL3, INCLUDED
  ORNITHINE KETOACID AMINOTRANSFERASE DEFICIENCY; OKT DEFICIENCY
  ORNITHINE-DELTA-AMINOTRANSFERASE DEFICIENCYORNITHINE AMINOTRANSFERASE; OAT, INCLUDED

Culture Protocols

back to top
Passage Frozen 17
Split Ratio 1:2
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 Subject
  • NA09118 - DNA
Same Family
  • 2121
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