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
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
6 |
| |
| argininosuccinate synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.3.4.5 |
| |
| Remarks |
Neonatal; deficient Argininosuccinate synthetase; no detectable enzyme antigen |
| Si EC, Pfeifer RW, Yim GK, Iodoacetic acid and related sulfhydryl reagents fail to inhibit cell- cell communication: mechanisms of immunotoxicity in vitro. Toxicology44:73-89 1987 |
| PubMed ID: 3105120 |
| |
| 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 |
| Passage Frozen |
6 |
| 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 |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
|
|