GM02291
Fibroblast from Lung, Lung
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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Lung
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Cell Type
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Fibroblast
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Tissue Type
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Lung
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Lung, Lung
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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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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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| Passage Frozen |
4 |
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| hypoxanthine phosphoribosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.8 |
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| Remarks |
Fetal lung fibroblast culture; see also GM02292C Lymphoid and GM02338 Amniotic; same patient as GM02290A; HPRT deficient; positive family history |
| Song YJ, Stinski MF, Inhibition of cell division by the human cytomegalovirus IE86 protein: role of the p53 pathway or cyclin-dependent kinase 1/cyclin B1 Journal of virology79:2597-603 2005 |
| PubMed ID: 15681459 |
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| Lashmit PE, Lundquist CA, Meier JL, Stinski MF, Cellular repressor inhibits human cytomegalovirus transcription from the UL127 promoter. J Virol78(10):5113-23 2004 |
| PubMed ID: 15113893 |
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| Keller MJ, Wheeler DG, Cooper E, Meier JL, Role of the human cytomegalovirus major immediate-early promoter's 19-base-pair-repeat cyclic AMP-response element in acutely infected cells. J Virol77(12):6666-75 2003 |
| PubMed ID: 12767986 |
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| Bailly V, Zhang Z, Meier W, Cate R, Sanicola M, Bonventre JV, Shedding of Kidney Injury Molecule-1, a putative adhesion protein involved in renal regeneration. J Biol Chem[epub ahead of print]:6666-75 2002 |
| PubMed ID: 12138159 |
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| Chen J, Stinski MF, Role of regulatory elements and the MAPK/ERK or p38 MAPK pathways for activation of human cytomegalovirus gene expression. J Virol76(10):4873-85 2002 |
| PubMed ID: 11967304 |
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| Meier JL, Pruessner JA, The human cytomegalovirus major immediate-early distal enhancer region is required for efficient viral replication and immediate-early gene expression. J Virol74:1602-13 2000 |
| PubMed ID: 10644329 |
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| Kuerbitz SJ, Malandro J, Compitello N, Baylin SB, Graff JR, Deletion of p16INK4A/CDKN2 and p15INK4B in human somatic cell hybrids and
hybrid-derived tumors. Cell Growth Differ10(1):27-33 1999 |
| PubMed ID: 9950215 |
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| Lundquist CA, Meier JL, Stinski MF, A strong negative transcriptional regulatory region between the human cytomegalovirus UL127 gene and the major immediate-early enhancer. J Virol73:9039-52 1999 |
| PubMed ID: 10516010 |
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| Chen P, Ellmore N, Weissman BE, Functional evidence for a second tumor suppressor gene on human chromosome 17. Mol Cell Biol14:534-42 1994 |
| PubMed ID: 8264622 |
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| Hayashi J, Yonekawa H, Murakami J, Tagashira Y, Pereira-Smith OM, Shay JW, Mitochondrial genomes in intraspecies mammalian cell hybrids display codominant or dominant/recessive behavior. Exp Cell Res172:218-27 1987 |
| PubMed ID: 3653255 |
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| Bunn CL, Baron JI, Mitchell D, Inherent resistance of HeLa cell derivatives to paromomycin. In Vitro Cell Dev Biol22:381-6 1986 |
| PubMed ID: 3015861 |
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| Geiser AG, Der CJ, Marshall CJ, Stanbridge EJ, Suppression of tumorigenicity with continued expression of the c-Ha-ras oncogene in EJ bladder carcinoma-human fibroblast hybrid cells. Proc Natl Acad Sci U S A83:5209-13 1986 |
| PubMed ID: 3523486 |
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| Sanford KK, Parshad R, Stanbridge EJ, Frost JK, Jones GM, Wilkinson JE, Tarone RE, Chromosomal radiosensitivity during the G2 cell cycle period and cytopathology of human normal x tumor cell hybrids. Cancer Res46:2045-9 1986 |
| PubMed ID: 3948180 |
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| Bunn CL, White FA, O'Guin WM, Sawyer RH, Knapp LW, Intermediate filament expression and lifespan potential in human somatic cell hybrids. In Vitro Cell Dev Biol21:716-20 1985 |
| PubMed ID: 2416734 |
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| Knapp LW, O'Guin WM, Sawyer RH, Mitchell D, Bunn CL, Clonal variations in keratin. Intermediate filament expression by human somatic cell hybrids. Exp Cell Res156:359-66 1985 |
| PubMed ID: 2578403 |
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| Peehl DM, Stanbridge EJ, Anchorage-independent growth of normal human fibroblasts. Proc Natl Acad Sci U S A78:3053-7 1981 |
| PubMed ID: 6942414 |
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| Weissman B, Stanbridge EJ, Characterization of ouabain resistant, hypoxanthine phosphoribosyl transferase deficient human cells and their usefulness as a general method for the production of human cell hybrids. Cytogenet Cell Genet28:227-39 1980 |
| PubMed ID: 6450667 |
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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 |
| Passage Frozen |
4 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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