ID   CS1BE
AC   CVCL_L473
SY   Cockayne Syndrome 1 BEthesda; GM01629; GM-1629; GM 1629; GM1629
DR   CLO; CLO_0031492
DR   BioSample; SAMN00806991
DR   Coriell; GM01629
DR   JCRB; JCRB3040
DR   JCRB; KURB1918
DR   Wikidata; Q54836963
RX   CelloPub=CLPUB00447;
RX   DOI=10.21954/ou.ro.0000e27e;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7301938;
RX   PubMed=8317483;
RX   PubMed=9443879;
RX   PubMed=12665480;
RX   PubMed=27543334;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Arg670Trp (c.2008C>T) (C2087T); ClinVar=VCV000190158; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; PubMed=9443879).
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Tyr1179Leufs*22 (c.3536delA) (3615delA); ClinVar=VCV000190167; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; PubMed=9443879).
CC   Discontinued: JCRB; KURB1918; probable.
CC   Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB3040
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 12,13
ST   D16S539: 11,12
ST   D5S818: 11
ST   D7S820: 8,11
ST   TH01: 7
ST   TPOX: 9,11
ST   vWA: 15,17
DI   NCIt; C135726; Cockayne syndrome type B
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 02-05-24; Version: 18
//
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=10.21954/ou.ro.0000e27e;
RA   Mallery D.L.;
RT   "The identification and analysis of mutation in the Cockayne syndrome
RT   B gene.";
RL   Thesis PhD (1999), The Open University, United Kingdom.
//
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=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=9443879; DOI=10.1086/301686;
RA   Mallery D.L., Tanganelli B., Colella S., Steingrimsdottir H.,
RA   van Gool A.J., Troelstra C., Stefanini M., Lehmann A.R.;
RT   "Molecular analysis of mutations in the CSB (ERCC6) gene in patients
RT   with Cockayne syndrome.";
RL   Am. J. Hum. Genet. 62:77-85(1998).
//
RX   PubMed=12665480; DOI=10.1096/fj.02-0851com;
RA   Tuo J.-S., Jaruga P., Rodriguez H., Bohr V.A., Dizdaroglu M.;
RT   "Primary fibroblasts of Cockayne syndrome patients are defective in
RT   cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting
RT   from oxidative stress.";
RL   FASEB J. 17:668-674(2003).
//
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).
//