Description:
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
CPS1 |
| Chromosomal Location |
2q35 |
| Allelic Variant 1 |
E1034G; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY |
| Identified Mutation |
GLU1034GLY |
| 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; |
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