GM11634
LCL from B-Lymphocyte
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases Disorders of the Urea Cycle |
Class |
Disorders of Amino Acid Metabolism |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
Black/African American
|
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 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. |
|
Remarks |
Elevated serum arginine level; <1% of control RBC arginase activity; severe neurologic impairment mostly involving ataxia; seizures; negative family history; on diet therapy |
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 |
Supplement |
- |
|
|