ID   CS3BE-S3-G1
AC   CVCL_F631
SY   CS3BE.S3.G1; CS3BE.S3G1; CS3BEs3gl; CS3BESV; GM16094; GM1856(SV)
DR   CLO; CLO_0018853
DR   BioSample; SAMN00804326
DR   Coriell; GM16094
DR   JCRB; KURB1909
DR   Wikidata; Q54848318
RX   PubMed=1339317;
RX   PubMed=2903889;
RX   PubMed=3002824;
RX   PubMed=7664335;
RX   PubMed=7671243;
RX   PubMed=19329487;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3439; ERCC8; Simple; p.Glu13Ter (c.37G>T); ClinVar=VCV000001716; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 3439; ERCC8; Simple; p.Ala160Val (c.479C>T); ClinVar=VCV000001717; Zygosity=Heterozygous (from parent cell line).
CC   Transfected with: UniProtKB; P0A9M5; Escherichia coli gpt.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) [Note=pSV3-gpt].
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)
HI   CVCL_F632 ! CS3BE
SX   Male
AG   13Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 05-10-23; Version: 19
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RX   PubMed=1339317; DOI=10.1016/0092-8674(92)90390-x;
RA   Troelstra C., van Gool A., 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=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=3002824; DOI=10.1016/0014-4827(86)90356-3;
RA   Mayne L.V., Priestley A., James M.R., Burke J.F.;
RT   "Efficient immortalization and morphological transformation of human
RT   fibroblasts by transfection with SV40 DNA linked to a dominant
RT   marker.";
RL   Exp. Cell Res. 162:530-538(1986).
//
RX   PubMed=7664335; DOI=10.1016/0092-8674(95)90028-4;
RA   Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R.J.,
RA   Schultz R.A., Stefanini M., Lehmann A.R., Mayne L.V., Friedberg E.C.;
RT   "The Cockayne syndrome group A gene encodes a WD repeat protein that
RT   interacts with CSB protein and a subunit of RNA polymerase II TFIIH.";
RL   Cell 82:555-564(1995).
//
RX   PubMed=7671243;
RA   Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L.,
RA   Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J.,
RA   Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.;
RT   "Different removal of ultraviolet photoproducts in genetically related
RT   xeroderma pigmentosum and trichothiodystrophy diseases.";
RL   Cancer Res. 55:4325-4332(1995).
//
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).
//