Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Disorders of the Urea Cycle
Quantity 50 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Asian, Other
Hispanic Ethnicity Not Hispanic/Latino
Country of Origin USA
Family History N
Relation to Proband proband
Species Homo sapiens
Common Name Human
Remarks Affected, symptoms onset at age 4; low bone density; decreased arginase enzyme level; protein restricted diet.
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene OTC
Chromosomal Location Xp21.1
Allelic Variant 1 300461.0001; OTC DEFICIENCY
Identified Mutation OTC, DEL
Remark Affected, symptoms onset at age 4; low bone density; decreased arginase enzyme level; protein restricted diet.
No data is available
No data is available
Split Ratio 1:3
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

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