Coriell Institute
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 26 years; neurological evaluation at age one showed no ambulation; five fold elevated above mean arginine level in blood; decreased arginase enzyme level in red blood cells; autism spectrum disorder; communication disorder (speech delay); learning disabilities; mental retardation with developmental delay (gross motor delay and bilateral lower extremity spasticity; on sodium phenylbutyrate; protein restriction; donor subject has a G>A transition at nucleotide 425 in exon 4 of the ARG1 gene resulting in the substitution of glutamic acid for glycine at codon 142 [Gly142Glu (G142E)]
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 G142E; ARGININEMIA
Identified Mutation GLY142GLU
Remark Clinically affected; onset of symptoms at age 26 years; neurological evaluation at age one showed no ambulation; five fold elevated above mean arginine level in blood; decreased arginase enzyme level in red blood cells; autism spectrum disorder; communication disorder (speech delay); learning disabilities; mental retardation with developmental delay (gross motor delay and bilateral lower extremity spasticity; on sodium phenylbutyrate; protein restriction; donor subject has a G>A transition at nucleotide 425 in exon 4 of the ARG1 gene resulting in the substitution of glutamic acid for glycine at codon 142 [Gly142Glu (G142E)]
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

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