ID   CS1AN
AC   CVCL_L471
SY   Cockayne Syndrome 1 ANn Arbor; UM106; UM 106; GM00739; GM-739; GM 739; GM739; GM00739A
DR   CLO; CLO_0028821
DR   Coriell; GM00739
DR   GEO; GSM3738754
DR   GEO; GSM3738755
DR   JCRB; KURB1910
DR   Wikidata; Q54836433
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=157803;
RX   PubMed=431551;
RX   PubMed=1339317;
RX   PubMed=2973075;
RX   PubMed=6492896;
RX   PubMed=7264357;
RX   PubMed=7301938;
RX   PubMed=7360141;
RX   PubMed=8609460;
RX   PubMed=12665480;
RX   PubMed=18079351;
RX   PubMed=19329487;
RX   PubMed=34271225;
CC   Population: Caucasian.
CC   Senescence: Senesces at 22 PDL (PubMed=6492896).
CC   Doubling time: 50 hours (PubMed=8609460).
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Lys337Ter (c.1009A>T) (A1088T); ClinVar=VCV000550722; Zygosity=Heterozygous (PubMed=1339317).
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Arg857Ter (c.2569C>T); ClinVar=VCV000553383; Zygosity=Heterozygous (PubMed=1339317).
CC   Omics: Transcriptome analysis by RNAseq.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=34271225
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D12S391: 18.3,20
ST   D13S317: 10,12
ST   D16S539: 12,13
ST   D18S51: 14,19
ST   D19S433: 13,14
ST   D1S1656: 16
ST   D21S11: 30,30.2
ST   D2S1338: 18,24
ST   D3S1358: 15,16
ST   D5S818: 10,12
ST   D6S1043: 17,19
ST   D7S820: 9,11
ST   D8S1179: 14,15
ST   FGA: 19,23
ST   Penta D: 10,15
ST   Penta E: 7,11
ST   TH01: 6,7
ST   TPOX: 8,11
DI   NCIt; C135726; Cockayne syndrome type B
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Finite cell line
DT   Created: 06-05-13; 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 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=1339317; DOI=10.1016/0092-8674(92)90390-x;
RA   Troelstra C., van Gool A.J., de Wit J., Vermeulen W., Bootsma D.,
RA   Hoeijmakers J.H.J.;
RT   "ERCC6, a member of a subfamily of putative helicases, is involved in
RT   Cockayne's syndrome and preferential repair of active genes.";
RL   Cell 71:939-953(1992).
//
RX   PubMed=2973075; DOI=10.2307/3577479;
RA   Fertil B., Deschavanne P.J., Debieu D., Malaise E.-P.;
RT   "Correlation between PLD repair capacity and the survival curve of
RT   human fibroblasts in exponential growth phase: analysis in terms of
RT   several parameters.";
RL   Radiat. Res. 116:74-88(1988).
//
RX   PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7;
RA   Cleaver J.E.;
RT   "DNA repair deficiencies and cellular senescence are unrelated in
RT   xeroderma pigmentosum cell lines.";
RL   Mech. Ageing Dev. 27:189-196(1984).
//
RX   PubMed=7264357; DOI=10.1111/1523-1747.ep12482447;
RA   Fujiwara Y., Ichihashi M., Kano Y., Goto K., Shimizu K.;
RT   "A new human photosensitive subject with a defect in the recovery of
RT   DNA synthesis after ultraviolet-light irradiation.";
RL   J. Invest. Dermatol. 77:256-263(1981).
//
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=7360141; DOI=10.1016/0027-5107(80)90180-3;
RA   Marshall R.R., Arlett C.F., Harcourt S.A., Broughton B.C.;
RT   "Increased sensitivity of cell strains from Cockayne's syndrome to
RT   sister-chromatid-exchange induction and cell killing by UV light.";
RL   Mutat. Res. 69:107-112(1980).
//
RX   PubMed=8609460; DOI=10.1080/095530096146075;
RA   Alsbeih G.A., Fertil B., Arlett C.F., Malaise E.-P.;
RT   "High split-dose recovery in hypersensitive human fibroblasts: a case
RT   of induced radioresistance?";
RL   Int. J. Radiat. Biol. 69:225-239(1996).
//
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=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; PMCID=PMC2667150;
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=34271225; DOI=10.1016/j.scr.2021.102456;
RA   Martins S., Hacheney I., Teichweyde N., Hildebrandt B., Krutmann J.,
RA   Rossi A.;
RT   "Generation of an induced pluripotent stem cell line (IUFi001) from a
RT   Cockayne syndrome patient carrying a mutation in the ERCC6 gene.";
RL   Stem Cell Res. 55:102456-102456(2021).
//