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 Not 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 4 years; decreased argininosuccinate lyase activity in skin fibroblasts; learning disabilities; mental retardation with developmental delay; neurological evaluation was normal at age 4 years; on citrulline arginine supplement; protein restriction; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 839 in the ASL gene (839delG); the second allele has a G>A transition at nucleotide 35 in exon 2 of the ASL gene (35G>A) resulting in the substitution of glutamine for arginine at codon 12 [Arg12Gln (R12Q)]
argininosuccinate lyase According to the submitter biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.3.2.1
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene ASL
Chromosomal Location 7cen-q11.2
Allelic Variant 1 ; ARGININOSUCCINIC ACIDURIA
Identified Mutation 839delG
 
Gene ASL
Chromosomal Location 7cen-q11.2
Allelic Variant 2 R12Q; ARGININOSUCCINIC ACIDURIA
Identified Mutation ARG12GLN
Remark Clinically affected; onset of symptoms at age 4 years; decreased argininosuccinate lyase activity in skin fibroblasts; learning disabilities; mental retardation with developmental delay; neurological evaluation was normal at age 4 years; on citrulline arginine supplement; protein restriction; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 839 in the ASL gene (839delG); the second allele has a G>A transition at nucleotide 35 in exon 2 of the ASL gene (35G>A) resulting in the substitution of glutamine for arginine at codon 12 [Arg12Gln (R12Q)]
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