Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Nucleotide and Nucleic Acid Metabolism
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Family Member 2
Relation to Proband sister
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Urolithiasis; onset at age 42; 1% of control RBC APRT specific activity; normal RBC HPRT activity; 1% of control cross-reacting material to anti-APRT antibodies in RBC; homozygous for APRT codon 110, exon 4, T>C transition
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
MUTATION VERIFICATION Sahota et al (Hum Mol Genet 3:817-818 1994) reported that DNA from this APRT-deficient subject was homozygous for a T-to-C transition at position 1759 of the adenine phosphoribosyltransferase gene. The observed change was expected to lead to a leu-to-pro substitution in codon 110 (CTG-to-CCG L110P) in exon 4.
 
adenine phosphoribosyltransferase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.7; 1% activity.
 
Gene APRT
Chromosomal Location 16q24
Allelic Variant 1 102600.0007; APRT DEFICIENCY
Identified Mutation LEU110PRO; In 2 sisters from Newfoundland with APRT deficiency (614723), Sahota et al. (1994) identified a homozygous mutation in the APRT gene, resulting in a leu110-to-pro (L110P) substitution. One of the sisters exhibited 2,8-dihydroxyadenine urolithiasis, whereas the other was disease-free. Sahota et al. (1994) found this patient to be homozygous for the T to C transition at nucleotide position 1759 resulting in a leucine to proline missense transition at codon position 110 [leu110pro (L110P)] in the APRT gene.
 
Gene APRT
Chromosomal Location 16q24
Allelic Variant 2 102600.0007; APRT DEFICIENCY
Identified Mutation LEU110PRO; In 2 sisters from Newfoundland with APRT deficiency (614723), Sahota et al. (1994) identified a homozygous mutation in the APRT gene, resulting in a leu110-to-pro (L110P) substitution. One of the sisters exhibited 2,8-dihydroxyadenine urolithiasis, whereas the other was disease-free. Sahota et al. (1994) found this patient to be homozygous for the T to C transition at nucleotide position 1759 resulting in a leucine to proline missense transition at codon position 110 [leu110pro (L110P)] in the APRT gene.
Remark Urolithiasis; onset at age 42; 1% of control RBC APRT specific activity; normal RBC HPRT activity; 1% of control cross-reacting material to anti-APRT antibodies in RBC; homozygous for APRT codon 110, exon 4, T>C transition
Sahota A, Chen J, Boyadjiev SA, Gault MH, Tischfield JA, Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. Hum Mol Genet3:817-8 1994
PubMed ID: 7915931
 
Gault MH, Simmonds HA, Snedden W, Dow D, Churchill DN, Penney H, Urolithiasis due to 2,8-dihydroxyadenine in an adult. N Engl J Med305:1570-2 1981
PubMed ID: 7311997
No data is available
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
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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