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GM24019 LCL from B-Lymphocyte

Description:

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
ORNITHINE CARBAMOYLTRANSFERASE; OTC
DISORDERS OF THE UREA CYCLE

Affected:

At Risk

Sex:

Female

Age:

39 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Disorders of the Urea Cycle
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family History Y
Relation to Proband proband
Species Homo sapiens
Common Name Human
Remarks Asymptomatic; subject has deletion of entire OTC gene; mood disorder.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene OTC
Chromosomal Location Xp21.1
Allelic Variant 1 300461.0001; OTC DEFICIENCY
Identified Mutation OTC, DEL

Phenotypic Data

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Remarks Asymptomatic; subject has deletion of entire OTC gene; mood disorder.

External Links

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Gene Cards OTC
Gene Ontology GO:0000050 urea cycle
GO:0004585 ornithine carbamoyltransferase activity
GO:0005759 mitochondrial matrix
GO:0006520 amino acid metabolism
GO:0006526 arginine biosynthesis
GO:0009348 ornithine carbamoyltransferase complex
GO:0016597 amino acid binding
GO:0016740 transferase activity
NCBI Gene Gene ID:5009
NCBI GTR 300461 ORNITHINE CARBAMOYLTRANSFERASE; OTC
311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
OMIM 300461 ORNITHINE CARBAMOYLTRANSFERASE; OTC
311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
Omim Description OCT DEFICIENCY; OCTDORNITHINE CARBAMOYLTRANSFERASE, INCLUDED; OTC, INCLUDED
  ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY
  ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
  VALPROATE SENSITIVITY, INCLUDED

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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