GM01207
LCL from B-Lymphocyte
Description:
CITRULLINEMIA, CLASSIC
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Disorders of the Urea Cycle |
Class |
Disorders of Amino Acid Metabolism |
Alternate IDs |
GM18003 [CITRULLINEMIA, CLASSIC] |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Family Member
|
4
|
Relation to Proband
|
sister
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
HLA type A11,Bw15/A28,Bw35; possible heterozygote |
Simmons JG, Fuller CR, Buchanan PD, Yount WJ, Distribution of surface, cytoplasmic and secreted IgG subclasses in human lymphoblastoid cell lines and normal peripheral blood lymphocytes. Scand J Immunol14:1-13 1981 |
PubMed ID: 7313555 |
dbSNP |
dbSNP ID: 16014 |
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 |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
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 |
- |
|
|