ID   CS2BE
AC   CVCL_7314
SY   Cockayne Syndrome 2 BEthesda; CS5HO; GM01098; GM-1098; GM 1098; GM1098; GM 1098B; GM01098B
DR   CLO; CLO_0030186
DR   BioSample; SAMN00803626
DR   Coriell; GM01098
DR   JCRB; KURB1916
DR   Wikidata; Q54836644
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=157803;
RX   PubMed=431551;
RX   PubMed=6096450;
RX   PubMed=6622549;
RX   PubMed=7301938;
RX   PubMed=7471106;
RX   PubMed=9443879;
RX   PubMed=9777763;
RX   PubMed=12665480;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Ser222Tyrfs*25 (c.665_723del59) (Ex10del); Zygosity=Heterozygous (PubMed=9443879).
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Tyr1179Ilefs*22 (c.3535delT); Zygosity=Heterozygous (PubMed=9443879).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C135726; Cockayne syndrome type B
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_L458 ! CS2BE LCL
SX   Male
AG   20Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 22
//
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 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 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=157803;
RA   Lehmann A.R., Kirk-Bell S., Mayne L.V.;
RT   "Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated
RT   cells from patients with Cockayne's syndrome.";
RL   Cancer Res. 39:4237-4241(1979).
//
RX   PubMed=431551; DOI=10.1016/0027-5107(79)90194-5;
RA   Wade M.H., Chu E.H.-Y.;
RT   "Effects of DNA damaging agents on cultured fibroblasts derived from
RT   patients with Cockayne syndrome.";
RL   Mutat. Res. 59:49-60(1979).
//
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=6622549; DOI=10.1111/j.1751-1097.1983.tb08373.x;
RA   Coohill T.P., Moore S.P., Grider R.A.;
RT   "Action spectra (254-302 nm) for four human photosensitive cell
RT   lines.";
RL   Photochem. Photobiol. 38:105-107(1983).
//
RX   PubMed=7301938; DOI=10.1111/j.1751-1097.1981.tb09049.x;
RA   Day R.S. 3rd, 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=7471106;
RA   Arlett C.F., Harcourt S.A.;
RT   "Survey of radiosensitivity in a variety of human cell strains.";
RL   Cancer Res. 40:926-932(1980).
//
RX   PubMed=9443879; DOI=10.1086/301686; PMCID=PMC1376810;
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=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=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).
//