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 |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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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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| Passage Frozen |
2 |
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| argininosuccinate synthase |
Kobayashi et al (J Biol Chem 265:11361-11367 1990) reported that this citrullinemia cell culture had undetectable levels of argininosuccinate synthetase activity & that cDNA from this patient lacked sequences corresponding to exons 6 & 13 of the ASS gene. EC Number: 6.3.4.5; 0% activity. |
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| Remarks |
Mild mental retardation; increased plasma citrulline; a sib died of citrullinemia; deficient ASS activity; no detectable enzyme antigen; possible compound heterozygote by mRNA analysis; same patient as GM03056; see GM01685 Lymphoid |
| Kobayashi K, Jackson MJ, Tick DB, O'Brien WE, Beaudet AL, Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. J Biol Chem265:11361-7 1990 |
| PubMed ID: 2358466 |
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| Jackson MJ, Kobayashi K, Beaudet AL, O'Brien WE, Analysis of deletions at the human argininosuccinate synthetase locus. Mol Biol Med6:179-86 1989 |
| PubMed ID: 2615645 |
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| Su TS, Beaudet AL, O'Brien WE, Abnormal mRNA for argininosuccinate synthetase in citrullinaemia. Nature301:533-4 1983 |
| PubMed ID: 6823333 |
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| 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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| Cathelineau L, Dinh DP, Briand P, Kamoun P, Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. Hum Genet57:282-4 1981 |
| PubMed ID: 7250970 |
| 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 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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 |
- |
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