ID CS3BE AC CVCL_F632 SY Cockayne Syndrome 3 BEthesda; GM01856; GM-1856; GM 1856; GM1856; GM01856B; GM 1856B DR CLO; CLO_0031403 DR BioSample; SAMN00807229 DR Coriell; GM01856 DR JCRB; KURB1908 DR Wikidata; Q54837129 RX CelloPub=CLPUB00447; RX DOI=10.5962/bhl.title.4090; RX PubMed=2903889; RX PubMed=6096450; RX PubMed=7301938; RX PubMed=8317483; RX PubMed=9777763; RX PubMed=15744458; RX PubMed=17297471; RX PubMed=18079351; RX PubMed=19329487; RX PubMed=27543334; CC Population: Caucasian. CC Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Glu13Ter (c.37G>T); ClinVar=VCV000001716; Zygosity=Heterozygous (PubMed=15744458). CC Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Ala160Val (c.479C>T); ClinVar=VCV000001717; Zygosity=Heterozygous (PubMed=15744458). CC Derived from site: In situ; Skin; UBERON=UBERON_0002097. CC Cell type: Fibroblast of skin; CL=CL_0002620. DI NCIt; C135725; Cockayne syndrome type A DI ORDO; Orphanet_191; Cockayne syndrome OX NCBI_TaxID=9606; ! Homo sapiens (Human) OI CVCL_F633 ! CS3BE LCL SX Male AG 13Y CA Finite cell line DT Created: 11-02-13; Last updated: 19-12-24; Version: 22 CH CVCL_F631 ! CS3BE-S3-G1 // RX PubMed=17297471; DOI=10.1038/sj.onc.1210232; RA D'Errico, Mariarosaria RA Parlanti, Eleonora RA Teson, Massimo RA Degan, Paolo RA Lemma, Tiziana RA Calcagnile, Angelo Salvatore RA Iavarone, Ivano RA Jaruga, Pawel RA Ropolo, Monica RA Pedrini, Antonia M. RA Orioli, Donata RA Frosina, Guido RA Zambruno, Giovanna RA Dizdaroglu, Miral RA Stefanini, Miria RA Dogliotti, Eugenia RT "The role of CSA in the response to oxidative DNA damage in human RT cells."; RL Oncogene 26:4336-4343(2007). // RX PubMed=19329487; DOI=10.1073/pnas.0902113106; PMCID=PMC2667150; RA Nardo, Tiziana RA Oneda, Roberta RA Spivak, Graciela RA Vaz, Bruno RA Mortier, Laurent RA Thomas, Pierre RA Orioli, Donata RA Laugel, Vincent RA Stary, Anne RA Hanawalt, Philip C. RA Sarasin, Alain RA Stefanini, Miria RT "A UV-sensitive syndrome patient with a specific CSA mutation reveals RT separable roles for CSA in response to UV and oxidative DNA damage."; RL Proc. Natl. Acad. Sci. U.S.A. 106:6209-6214(2009). // RX CelloPub=CLPUB00447; RA Mulivor, Richard A. RA Suchy, Sharon F. RT "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell RT repository. 16th edition. October 1992."; RL (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992). // RX DOI=10.5962/bhl.title.4090; RA Coriell, Lewis Lemon RA Greene, Arthur E. RT "The human genetic mutant cell repository: list of genetic variants, RT chromosomal aberrations and normal cell cultures submitted to the RT repository. 4th edition. October 1977."; RL (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977). // RX PubMed=9777763; DOI=10.1016/S0190-9622(98)70005-2; RA Miyauchi-Hashimoto, Hiroko RA Akaeda, Tamiyo RA Maihara, Toshiro RA Ikenaga, Mituo RA Horio, Takeshi RT "Cockayne syndrome without typical clinical manifestations including RT neurologic abnormalities."; RL J. Am. Acad. Dermatol. 39:565-570(1998). // RX PubMed=18079351; DOI=10.1259/bjr/27072321; RA Arlett, Colin Francis RA Green, Michael H.L. RA Rogers, Paul Bryan RA Lehmann, Alan R. RA Plowman, Piers N. RT "Minimal ionizing radiation sensitivity in a large cohort of xeroderma RT pigmentosum fibroblasts."; RL Br. J. Radiol. 81:51-58(2008). // RX PubMed=27543334; DOI=10.1073/pnas.1610020113; PMCID=PMC5018765; RA Reid-Bayliss, Kate S. RA Arron, Sarah T. RA Loeb, Lawrence A. RA Bezrookove, Vladimir RA Cleaver, James Edward RT "Why Cockayne syndrome patients do not get cancer despite their DNA RT repair deficiency."; RL Proc. Natl. Acad. Sci. U.S.A. 113:10151-10156(2016). // RX PubMed=6096450; DOI=10.1111/1523-1747.ep12260999; RA Otsuka, Fujio RA Tarone, Robert E. RA Cayeux, Sophie RA Robbins, Jay H. RT "Use of lymphoblastoid cell lines to evaluate the hypersensitivity to RT ultraviolet radiation in Cockayne syndrome."; RL J. Invest. Dermatol. 82:480-484(1984). // RX PubMed=15744458; DOI=10.1007/s10038-004-0228-2; RA Ridley, Andrew J. RA Colley, James RA Wynford-Thomas, David RA Jones, Christopher J. RT "Characterisation of novel mutations in Cockayne syndrome type A and RT xeroderma pigmentosum group C subjects."; RL J. Hum. Genet. 50:151-154(2005). // RX PubMed=7301938; DOI=10.1111/j.1751-1097.1981.tb09049.x; RA Day, Rufus S. 3rd RA Ziolkowski, Chuck H.J. RA DiMattina, Michael RT "Decreased host cell reactivation of UV-irradiated adenovirus 5 by RT fibroblasts from Cockayne's syndrome patients."; RL Photochem. Photobiol. 34:603-607(1981). // RX PubMed=2903889; DOI=10.1080/09553008814552321; RA Arlett, Colin Francis RA Green, Michael H.L. RA Priestley, Anne RA Harcourt, Susan A. RA Mayne, Lynne V. RT "Comparative human cellular radiosensitivity: I. The effect of SV40 RT transformation and immortalisation on the gamma-irradiation survival RT of skin derived fibroblasts from normal individuals and from RT ataxia-telangiectasia patients and heterozygotes."; RL Int. J. Radiat. Biol. 54:911-928(1988). // RX PubMed=8317483; PMCID=PMC1682247; RA Vermeulen, Wim RA Jaeken, Jaak RA Jaspers, Nicolaas G.J. RA Bootsma, Dirk RA Hoeijmakers, Jan Hendrik Jozef RT "Xeroderma pigmentosum complementation group G associated with RT Cockayne syndrome."; RL Am. J. Hum. Genet. 53:185-192(1993). //