Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Disorders of the Urea Cycle
Class Disorders of Amino Acid Metabolism
Quantity 0.050mg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Black
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Elevated serum arginine level; <1% of control RBC arginase activity; severe neurologic impairment mostly involving ataxia; seizures; negative family history; on diet therapy
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
arginase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.3.1; <1% activity.
 
Remark Elevated serum arginine level; <1% of control RBC arginase activity; severe neurologic impairment mostly involving ataxia; seizures; negative family history; on diet therapy
No data is available
No data is available
Split Ratio 1:2
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