GM02292
LCL from B-Lymphocyte
Description:
LESCH-NYHAN SYNDROME; LNS
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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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Ethnicity
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ENGLISH
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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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Clinical summary/Case history
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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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| hypoxanthine phosphoribosyltransferase |
Lymphoblasts are nonviable in HAT medium and have no detectable stable HPRT mRNA (Yang et al Nature 310:412 1984). Monnat (Cancer Res 49:8187 1989) used this cell culture as an HPRT negative and HPRT mRNA negative control in respective enzyme activity assays and in Northern analyses. EC Number: 2.4.2.8; 0% activity. |
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| Remarks |
Similarly affected brother; see GM02290A & GM02291 Fibroblast & GM02338 Amniotic; nonviable in HAT medium; no detectable stable HPRT mRNA |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021 |
| PubMed ID: 35394024 |
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| Dittmann KH, Dikomey E, Mayer C, Rodemann HP, The Bowman-Birk protease inhibitor enhances clonogenic cell survival of ionizing radiation-treated nucleotide excision repair-competent cells but not of xeroderma pigmentosum cells. Int J Radiat Biol76(2):223-9 2000 |
| PubMed ID: 10716643 |
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| Monnat RJ Jr, Molecular analysis of spontaneous hypoxanthine phosphoribosyltransferase mutations in thioguanine-resistant HL-60 human leukemia cells. Cancer Res49:81-7 1989 |
| PubMed ID: 2908855 |
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| Yang TP, Patel PI, Chinault AC, Stout JT, Jackson LG, Hildebrand BM, Caskey CT, Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature310:412-4 1984 |
| PubMed ID: 6087154 |
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| Tischfield J, Schafer IA, Dickerman LH, Trill J, Mulivor RA, Greene AE, Coriell LL, Lesch-Nyhan syndrome. Repository identification Nos. GM-2290, 2291, 2292, 2338, 3115, 3116, and 3117. Cytogenet Cell Genet24:199-200 1979 |
| PubMed ID: 477417 |
| Split Ratio |
1:3 |
| 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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