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NA23684 DNA from LCL

Description:

CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1

Affected:

Yes

Sex:

Female

Age:

5 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Disorders of the Urea Cycle
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity Not Hispanic/Latino
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; onset of symptoms at age 15 years; past hyperammonemic events; normal neurological evaluation at age 5 years; A>G transition at nucleotide 3101 in exon 25 of the CPS1 gene (3101A>G) resulting in the substitution of glycine for glutamic acid at codon 1034 [Glu1034Gly (E1034G)]; treatments include: citrulline arginine supplement, benzoate,sodium phenylbutyrate, and protein restriction;

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene CPS1
Chromosomal Location 2q35
Allelic Variant 1 E1034G; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
Identified Mutation GLU1034GLY

Phenotypic Data

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Remarks Clinically affected; onset of symptoms at age 15 years; past hyperammonemic events; normal neurological evaluation at age 5 years; A>G transition at nucleotide 3101 in exon 25 of the CPS1 gene (3101A>G) resulting in the substitution of glycine for glutamic acid at codon 1034 [Glu1034Gly (E1034G)]; treatments include: citrulline arginine supplement, benzoate,sodium phenylbutyrate, and protein restriction;

External Links

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Gene Cards CPS1
Gene Ontology GO:0000050 urea cycle
GO:0004087 carbamoyl-phosphate synthase (ammonia) activity
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0006526 arginine biosynthesis
GO:0016874 ligase activity
GO:0019856 pyrimidine base biosynthesis
NCBI Gene Gene ID:1373
NCBI GTR 237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
608307 CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1
OMIM 237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
608307 CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1
Omim Description CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY
  CPS1 DEFICIENCYCARBAMOYLPHOSPHATE SYNTHETASE I, INCLUDED; CPS1, INCLUDED
  HYPERAMMONEMIA DUE TO CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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Related Products
Same Subject
  • GM23684 - B-Lymphocyte
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