Description:
CITRULLINEMIA, CLASSIC
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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 |
| Class |
Disorders of Amino Acid Metabolism |
| 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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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| argininosuccinate synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.3.4.5 |
| |
| Remarks |
HLA type (Aw31,33)A9,Bw15,B12; deficient Argininosuccinate synthetase; 46,XY; line UM-21 |
| Su TS, Bock HG, Beaudet AL, O'Brien WE, Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts. J Clin Invest70:1334-9 1982 |
| PubMed ID: 7174798 |
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| Lockridge O, Spector EB, Bloom AD, Argininosuccinate synthetase activity in cultured human lymphocytes. Biochem Genet15:395-407 1977 |
| PubMed ID: 869901 |
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| Spector EB, Lockridge O, Bloom AD, Citrulline metabolism in normal and citrullinemic human lymphocyte lines. Biochem Genet13:471-85 1975 |
| PubMed ID: 1180883 |
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| Spector EB, Bloom AD, Citrullinemic lymphocytes in long term culture. Pediatr Res7:700-5 1973 |
| PubMed ID: 4732110 |
| dbSNP |
dbSNP ID: 10322 |
| NCBI GTR |
215700 CITRULLINEMIA, CLASSIC |
| OMIM |
215700 CITRULLINEMIA, CLASSIC |
| Omim Description |
ARGININOSUCCINATE SYNTHETASE DEFICIENCY; ASS DEFICIENCYARGININOSUCCINATE SYNTHETASE, INCLUDED; ASS, INCLUDED |
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ARGININOSUCCINATE SYNTHETASE PSEUDOGENE 2, INCLUDED; ASSP2, INCLUDED |
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ASSP4, INCLUDED |
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ASSP5, INCLUDED |
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ASSP6, INCLUDED |
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CITRULLINEMIA |
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CITRULLINURIA |
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