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
Race Caucasian
Hispanic Ethnicity Hispanic/Latino
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; onset of symptoms at age 6 years; five fold elevated above mean arginine level in blood; decreased arginase enzyme level in red blood cells; communication disorder; learning disabilities; mental retardation with developmental delay; past hyperammonemic events; neurological evaluation was normal at age 7; protein restriction; donor subject has a nonsense mutation in exon 4 of the ARG1 gene resulting in a stop at Ala122 [Ala122Ter (A122X)]
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
arginase According to the submitter biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.3.1
 
Gene ARG1
Chromosomal Location 6q23
Allelic Variant 1 A122X; ARGININEMIA
Identified Mutation ALA122TER
Remark Clinically affected; onset of symptoms at age 6 years; five fold elevated above mean arginine level in blood; decreased arginase enzyme level in red blood cells; communication disorder; learning disabilities; mental retardation with developmental delay; past hyperammonemic events; neurological evaluation was normal at age 7; protein restriction; donor subject has a nonsense mutation in exon 4 of the ARG1 gene resulting in a stop at Ala122 [Ala122Ter (A122X)]
No data is available
No data is available
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