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
//
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=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=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=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=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).
//
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=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=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=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=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   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).
//