GM08437
Fibroblast from Skin, Unspecified
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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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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Asian
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Ethnicity
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JAPANESE
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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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| PDL at Freeze |
5.5 |
| Passage Frozen |
2 |
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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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| Remarks |
Japanese; XP2YO(SV); SV40 transformed XP2YO skin fibroblasts (GM04313D); mild symptoms of XP with a squamous cell carcinoma of the lower lip; died of bile duct cancer at age 65; 10% of normal post UV unscheduled DNA synthesis |
| Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019 |
| PubMed ID: 31499327 |
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| Enoiu M, Jiricny J, Schärer OD, Repair of cisplatin-induced DNA interstrand crosslinks by a replication-independent pathway involving transcription-coupled repair and translesion synthesis Nucleic acids research40:8953-64 2012 |
| PubMed ID: 22810206 |
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| Stevens EV, Nishizuka S, Antony S, Reimers M, Varma S, Young L, Munson PJ, Weinstein JN, Kohn EC, Pommier Y, Predicting cisplatin and trabectedin drug sensitivity in ovarian and colon cancers Molecular cancer therapeutics7:10-8 2008 |
| PubMed ID: 18187810 |
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| Wang Y, Liu X, Matsuda A, Plunkett W, Repair of 2'-C-cyano-2'-deoxy-1-beta-D-arabino-pentofuranosylcytosine-induced DNA single-strand breaks by transcription-coupled nucleotide excision repair Cancer research68:3881-9 2008 |
| PubMed ID: 18483273 |
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| Panigrahi GB, Lau R, Montgomery SE, Leonard MR, Pearson CE, Slipped (CTG)*(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair Nature structural & molecular biology12:654-62 2005 |
| PubMed ID: 16025129 |
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| Fishel ML, Gamcsik MP, Delaney SM, Zuhowski EG, Maher VM, Karrison T, Moschel RC, Egorin MJ, Dolan ME, Role of glutathione and nucleotide excision repair in modulation of cisplatin activity with O6-benzylguanine Cancer chemotherapy and pharmacology55:333-42 2004 |
| PubMed ID: 15723259 |
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| Muheim-Lenz R, Buterin T, Marra G, Naegeli H, Short-patch correction of C/C mismatches in human cells Nucleic acids research32:6696-705 2004 |
| PubMed ID: 15613598 |
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| Reynolds M, Peterson E, Quievryn G, Zhitkovich A, Human Nucleotide Excision Repair Efficiently Removes Chromium-DNA Phosphate Adducts and Protects Cells against Chromate Toxicity. J Biol Chem279(29):30419-24 2004 |
| PubMed ID: 15087443 |
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| Gaillard PH, Wood RD, Activity of individual ERCC1 and XPF subunits in DNA nucleotide excision repair. Nucleic Acids Res29(4):872-9 2001 |
| PubMed ID: 11160918 |
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| Faruqi AF, Datta HJ, Carroll D, Seidman MM, Glazer PM, Triple-helix formation induces recombination in mammalian cells via a nucleotide excision repair-dependent pathway. Mol Cell Biol20:990-1000 2000 |
| PubMed ID: 10629056 |
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| Kumaresan KR, Lambert MW, Fanconi anemia, complementation group A, cells are defective in ability to
produce incisions at sites of psoralen interstrand cross-links. Carcinogenesis21(4):741-51 2000 |
| PubMed ID: 10753211 |
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| Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum,
Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999 |
| PubMed ID: 10447254 |
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| Littman SJ, Fang WH, Modrich P, Repair of large insertion/deletion heterologies in human nuclear extracts is directed by a 5' single-strand break and is independent of the mismatch repair system. J Biol Chem274:7474-81 1999 |
| PubMed ID: 10066813 |
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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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| Bessho T, Sancar A, Thompson LH, Thelen MP, Reconstitution of human excision nuclease with recombinant XPF-ERCC1 complex. J Biol Chem272:3833-7 1997 |
| PubMed ID: 9013642 |
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| Reardon JT, Bessho T, Kung HC, Bolton PH, Sancar A, In vitro repair of oxidative DNA damage by human nucleotide excision repair system: possible explanation for neurodegeneration in xeroderma pigmentosum patients. Proc Natl Acad Sci U S A94:9463-8 1997 |
| PubMed ID: 9256505 |
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| Matsunaga T, Mu D, Park CH, Reardon JT, Sancar A, Human DNA repair excision nuclease. Analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-ERCC1 antibodies. J Biol Chem270:20862-9 1995 |
| PubMed ID: 7657672 |
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| Vilpo JA, Vilpo LM, Szymkowski DE, O'Donovan A, Wood RD, An XPG DNA repair defect causing mutagen hypersensitivity in mouse leukemia L1210 cells. Mol Cell Biol15:290-7 1995 |
| PubMed ID: 7799936 |
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| Rinaldy A, Bellew T, Egli E, Lloyd RS, Increased UV resistance in xeroderma pigmentosum group A cells after transformation with a human genomic DNA clone. Proc Natl Acad Sci U S A87:6818-22 1990 |
| PubMed ID: 2168562 |
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| Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y, Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A87:9908-12 1990 |
| PubMed ID: 1702221 |
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| Yagi T, Takebe H, Establishment by SV40 transformation and characteristics of a cell line of xeroderma pigmentosum belonging to complementation group F. Mutat Res112:59-66 1983 |
| PubMed ID: 6298614 |
| Passage Frozen |
2 |
| Split Ratio |
1:7 |
| 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 |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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