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; 3439; ERCC8; Simple; p.Glu13Ter (c.37G>T); ClinVar=VCV000001716; Zygosity=Heterozygous (PubMed=15744458).
CC   Sequence variation: Mutation; 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: 29-06-23; Version: 21
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=2903889; DOI=10.1080/09553008814552321;
RA   Arlett C.F., Green M.H.L., Priestley A., Harcourt S.A., Mayne L.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 F., Tarone R.E., Cayeux S., Robbins J.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 R.S. III, Ziolkowski C.H.J., DiMattina M.;
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;
RA   Vermeulen W., Jaeken J., Jaspers N.G.J., Bootsma D., Hoeijmakers J.H.J.;
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 H., Akaeda T., Maihara T., Ikenaga M., Horio T.;
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 A.J., Colley J., Wynford-Thomas D., Jones C.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 M., Parlanti E., Teson M., Degan P., Lemma T., Calcagnile A.S.,
RA   Iavarone I., Jaruga P., Ropolo M., Pedrini A.M., Orioli D.,
RA   Frosina G., Zambruno G., Dizdaroglu M., Stefanini M., Dogliotti E.;
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 C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.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;
RA   Nardo T., Oneda R., Spivak G., Vaz B., Mortier L., Thomas P.,
RA   Orioli D., Laugel V., Stary A., Hanawalt P.C., Sarasin A.,
RA   Stefanini M.;
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;
RA   Reid-Bayliss K.S., Arron S.T., Loeb L.A., Bezrookove V., Cleaver J.E.;
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).
//