GM23430
LCL from B-Lymphocyte
Description:
CITRULLINEMIA, CLASSIC
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
Asian
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; onset of symptoms at age 5 months; ten fold elevation above mean of citrulline in plasma (3322umol/L); past hyperammonemic events; neurological evaluation was normal at age 2 months; on citrulline arginine supplement, sodium phenylbutyrate and phenylacetate; protein restriction. |
| 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 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|