Description:
CITRULLINEMIA, CLASSIC
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
| Class |
Disorders of Amino Acid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| 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. |
| |
| 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 |
| |
| 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 |
| |
| Su TS, Beaudet AL, O'Brien WE, Abnormal mRNA for argininosuccinate synthetase in citrullinaemia. Nature301:533-4 1983 |
| PubMed ID: 6823333 |
| |
| 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 |
| |
| 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 |
| dbSNP |
dbSNP ID: 14207 |
| NCBI GTR |
215700 CITRULLINEMIA, CLASSIC |
| OMIM |
215700 CITRULLINEMIA, CLASSIC |
| Omim Description |
ARGININOSUCCINATE SYNTHETASE DEFICIENCY; ASS DEFICIENCYARGININOSUCCINATE SYNTHETASE, INCLUDED; ASS, INCLUDED |
| |
ARGININOSUCCINATE SYNTHETASE PSEUDOGENE 2, INCLUDED; ASSP2, INCLUDED |
| |
ASSP4, INCLUDED |
| |
ASSP5, INCLUDED |
| |
ASSP6, INCLUDED |
| |
CITRULLINEMIA |
| |
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 |
- |
|
|