GM10818
LCL from B-Lymphocyte
Description:
ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD
ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| adenine phosphoribosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.7; <1% activity. |
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| Remarks |
Type I APRT deficiency; 2,8-dihydroxyadenine urolithiasis; onset at age 9 mo; hyperlaxity of joints & muscular hypotonia; treated with allopurinol; < 1% of normal APRT activity in lymphoid culture & RBC; slow growing culture |
| Van Acker KJ, Simmonds HA, Potter C, Cameron JS, Complete deficiency of adenine phosphoribosyltransferase. Report of a family. N Engl J Med297:127-32 1977 |
| PubMed ID: 865583 |
| Split Ratio |
1:2 |
| 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 |
| Supplement |
- |
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