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 1
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks Clinically normal; 1% of control RBC & lymphoblast APRT specific activ; 1% of control cross-reacting material to antiAPRT antibodies in RBC's & lymphoblasts; normal RBC HPRT activ; 46,XX; homozygous APRT codon 110, exon 4, T>C transition
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
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.
 
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 Clinically normal; 1% of control RBC & lymphoblast APRT specific activ; 1% of control cross-reacting material to antiAPRT antibodies in RBC's & lymphoblasts; normal RBC HPRT activ; 46,XX; homozygous 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
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