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 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 12 years; elevated argininosuccinic acid in blood and urine; learning disabilities; mental retardation with developmental delay; 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)]
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 12 years; elevated argininosuccinic acid in blood and urine; learning disabilities; mental retardation with developmental delay; 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 1:2
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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