GM00847
Fibroblast from Skin, Unspecified
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 |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Simian Virus 40
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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Black/African American
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Family Member
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6
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Relation to Proband
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maternal cousin
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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 |
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 |
Line LN-SV; SV40 transformed GM02063; G6PD type A; > 95% of cells are T-antigen positive; HPRT deficient; two affected brothers |
| Yang SY, Chang EYC, Lim J, Kwan HH, Monchaud D, Yip S, Stirling PC, Wong JMY, G-quadruplexes mark alternative lengthening of telomeres NAR cancer3:zcab031 2021 |
| PubMed ID: 34316718 |
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| Panneer Selvam S1,2, Roth BM1,2, Nganga R1,2, Kim J1,2, Cooley MA3, Helke K4, Smith CD5, Ogretmen B, Balance between senescence and apoptosis is regulated by telomere damage-induced association between p16 and caspase-3 Journal of Biological Chemistry293:9784-9800 2018 |
| PubMed ID: 29748384 |
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| Bower K, Napier CE, Cole SL, Dagg RA, Lau LM, Duncan EL, Moy EL, Reddel RR, Loss of wild-type ATRX expression in somatic cell hybrids segregates with activation of Alternative Lengthening of Telomeres PloS one7:e50062 2012 |
| PubMed ID: 23185534 |
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| Delacôte F, Perez C, Guyot V, Mikonio C, Potrel P, Cabaniols JP, Delenda C, Pâques F, Duchateau P, Identification of genes regulating gene targeting by a high-throughput screening approach Journal of nucleic acids2011:947212 2010 |
| PubMed ID: 21716659 |
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| Sidorova JM, Li N, Folch A, Monnat RJ, The RecQ helicase WRN is required for normal replication fork progression after DNA damage or replication fork arrest Cell cycle (Georgetown, Tex)7:796-807 2008 |
| PubMed ID: 18250621 |
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| Fasching CL, Neumann AA, Muntoni A, Yeager TR, Reddel RR, DNA damage induces alternative lengthening of telomeres (ALT) associated promyelocytic leukemia bodies that preferentially associate with linear telomeric DNA Cancer research67:7072-7 2007 |
| PubMed ID: 17652140 |
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| Dalerba P, Guiducci C, Poliani PL, Cifola I, Parenza M, Frattini M, Gallino G, Carnevali I, Di Giulio I, Andreola S, Lombardo C, Rivoltini L, Schweighoffer T, Belli F, Colombo MP, Parmiani G, Castelli C, Reconstitution of human telomerase reverse transcriptase expression rescues colorectal carcinoma cells from in vitro senescence: evidence against immortality as a constitutive trait of tumor cells Cancer Res65(6):2321-9 2005 |
| PubMed ID: 15781646 |
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| Fasching CL, Bower K, Reddel RR, Telomerase-independent telomere length maintenance in the absence of alternative lengthening of telomeres-associated promyelocytic leukemia bodies Cancer Res65(7):2722-9 2005 |
| PubMed ID: 15805271 |
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| Londono-Vallejo JA, Der-Sarkissian H, Cazes L, Bacchetti S, Reddel RR, Alternative lengthening of telomeres is characterized by high rates of telomeric exchange. Cancer Res64(7):2324-7 2004 |
| PubMed ID: 15059879 |
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| Silverman J, Takai H, Buonomo SB, Eisenhaber F, de Lange T, Human Rif1, ortholog of a yeast telomeric protein, is regulated by ATM and 53BP1 and functions in the S-phase checkpoint. Genes Dev18(17):2108-19 2004 |
| PubMed ID: 15342490 |
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| Wang J, Wiltshire T, Wang Y, Mikell C, Burks J, Cunningham C, Van Laar ES, Waters SJ, Reed E, Wang W, ATM-dependent CHK2 activation induced by anticancer agent, irofulven. J Biol ChemEpub ahead of print:2108-19 2004 |
| PubMed ID: 15269203 |
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| Frisan T, Cortes-Bratti X, Chaves-Olarte E, Stenerlöw B, Thelestam M, The Haemophilus ducreyi cytolethal distending toxin induces DNA double-strand breaks and promotes ATM-dependent activation of RhoA Cellular microbiology5:695-707 2003 |
| PubMed ID: 12969375 |
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| Stewart SA, Ben-Porath I, Carey VJ, O'Connor BF, Hahn WC, Weinberg RA, Erosion of the telomeric single-strand overhang at replicative senescence. Nat Genet33(4):492-6 2003 |
| PubMed ID: 12652299 |
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| Zlotorynski E, Rahat A, Skaug J, Ben-Porat N, Ozeri E, Hershberg R, Levi A, Scherer SW, Margalit H, Kerem B, Molecular basis for expression of common and rare fragile sites. Mol Cell Biol23(20):7143-51 2003 |
| PubMed ID: 14517285 |
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| Deming PB, Flores KG, Downes CS, Paules RS, Kaufmann WK, ATR enforces the topoisomerase II-dependent G2 checkpoint through inhibition of Plk1 kinase. J Biol Chem277(39):36832-8 2002 |
| PubMed ID: 12147700 |
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| Dziegielewski J, Beerman TA, Cellular responses to the DNA strand-scission enediyne C-1027 can be independent of ATM, ATR, and DNA-PK kinases. J Biol Chem277(23):20549-54 2002 |
| PubMed ID: 11927575 |
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| Stavropoulos DJ, Bradshaw PS, Li X, Pasic I, Truong K, Ikura M, Ungrin M, Meyn
MS, The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes
telomeric DNA synthesis. Hum Mol Genet11(25):3135-44 2002 |
| PubMed ID: 12444098 |
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| Wong JM, Kusdra L, Collins K, Subnuclear shuttling of human telomerase induced by transformation and DNA
damage. Nat Cell Biol4(9):731-6 2002 |
| PubMed ID: 12198499 |
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| Deming PB, Cistulli CA, Zhao H, Graves PR, Piwnica-Worms H, Paules RS, Downes CS, Kaufmann WK, The human decatenation checkpoint. Proc Natl Acad Sci U S A98(21):12044-9 2001 |
| PubMed ID: 11593014 |
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| Huang KC, Yamasaki EF, Snapka RM, Maintenance of episomal SV40 genomes in GM637 human fibroblasts. Virology262:457-69 1999 |
| PubMed ID: 10502524 |
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| Prince PR, Ogburn CE, Moser MJ, Emond MJ, Martin GM, Monnat RJ Jr, Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines. Hum Genet105:132-8 1999 |
| PubMed ID: 10480367 |
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| La Fontaine SL, Firth SD, Camakaris J, Englezou A, Theophilos MB, Petris MJ, Howie M, Lockhart PJ, Greenough M, Brooks H, Reddel RR, Mercer JF, Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases. J Biol Chem273:31375-80 1998 |
| PubMed ID: 9813047 |
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| Fritz E, Elsea SH, Patel PI, Meyn MS, Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype. Proc Natl Acad Sci U S A94:4538-42 1997 |
| PubMed ID: 9114025 |
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| Kilian A, Bowtell DD, Abud HE, Hime GR, Venter DJ, Keese PK, Duncan EL, Reddel RR, Jefferson RA, Isolation of a candidate human telomerase catalytic subunit gene, which reveals complex splicing patterns in different cell types. Hum Mol Genet6:2011-9 1997 |
| PubMed ID: 9328464 |
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| Keherly MJ, Hsieh CC, McCombs JL, Merryman LS, Papaconstantinou J, Characterization of somatic cell hybrids exhibiting extinction of AFP, albumin and an AFP-HPRT transgene. Somat Cell Mol Genet22:119-34 1996 |
| PubMed ID: 8782491 |
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| Saito H, Grompe M, Neeley TL, Jakobs PM, Moses RE, Fanconi anemia cells have a normal gene structure for topoisomerase I. Hum Genet93:583-6 1994 |
| PubMed ID: 8168839 |
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| Duncan EL, Whitaker NJ, Moy EL, Reddel RR, Assignment of SV40-immortalized cells to more than one complementation group for immortalization. Exp Cell Res205:337-44 1993 |
| PubMed ID: 8387017 |
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| Meyn MS, High spontaneous intrachromosomal recombination rates in ataxia- telangiectasia. Science260:1327-30 1993 |
| PubMed ID: 8493577 |
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| Meyn MS, Lu-Kuo JM, Herzing LB, Expression cloning of multiple human cDNAs that complement the phenotypic defects of ataxia-telangiectasia group D fibroblasts. Am J Hum Genet53:1206-16 1993 |
| PubMed ID: 7504406 |
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| Tomkinson AE, Starr R, Schultz RA, DNA ligase III is the major high molecular weight DNA joining activity in SV40-transformed human fibroblasts: normal levels of DNA ligase III activity in Bloom syndrome cells. Nucleic Acids Res21:5425-30 1993 |
| PubMed ID: 8265359 |
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| Saito H, Moses RE, Immortalization of Werner syndrome and progeria fibroblasts Experimental cell research192:373-9 1991 |
| PubMed ID: 1671011 |
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| Spiering AL, Smith JR, Pereira-Smith OM, A potent DNA synthesis inhibitor expressed by the immortal cell line SUSM-1. Exp Cell Res179:159-67 1988 |
| PubMed ID: 3169139 |
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| Protic-Sabljic M, Kraemer KH, Host cell reactivation by human cells of DNA expression vectors damaged by ultraviolet radiation or by acid-heat treatment. Carcinogenesis7:1765-70 1986 |
| PubMed ID: 3463438 |
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| Protic-Sabljic M, Kraemer KH, One pyrimidine dimer inactivates expression of a transfected gene in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A82:6622-6 1985 |
| PubMed ID: 2995975 |
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| Hwang SP, Kucherlapati RS, Events preceding stable integration of SV40 genomes in a human cell line. Somatic Cell Genet9:457-68 1983 |
| PubMed ID: 6312621 |
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| Pereira-Smith OM, Smith JR, Evidence for the recessive nature of cellular immortality. Science221:964-6 1983 |
| PubMed ID: 6879195 |
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| Benn PA, Kelley RI, Mellman WJ, Amer L, Boches FS, Markus HB, Nichols W, Hoffman B, Reversion from deficiency of galactose-1-phosphate uridylytransferase (GALT) in an SV40-transformed human fibroblast line. Somatic Cell Genet7:667-82 1981 |
| PubMed ID: 6275561 |
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| Owerbach D, Doyle D, Shows TB, Genetics of the large, external, transformation-sensitive (LETS) protein: assignment of a gene coding for expression of LETS to human chromosome 8. Proc Natl Acad Sci U S A75:5640-4 1978 |
| PubMed ID: 214793 |
| Split Ratio |
1:8 |
| 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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