ID   XP20BE
AC   CVCL_V577
SY   Xeroderma Pigmentosum 20 BEthesda; AG08803
DR   CLO; CLO_0031381
DR   Coriell; AG08803
DR   Wikidata; Q54742529
RX   CelloPub=CLPUB00597;
RX   PubMed=8823375;
RX   PubMed=9447232;
RX   PubMed=11841555;
RX   PubMed=12060391;
RX   PubMed=15572672;
RX   PubMed=18079351;
RX   PubMed=19179371;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Glu11Ter (c.31G>T); Zygosity=Heterozygous (from autologous cell line XP20BE).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156031; Xeroderma pigmentosum-Cockayne syndrome complex
DI   ORDO; Orphanet_220295; Xeroderma pigmentosum-Cockayne syndrome complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_V576 ! XP20BE LCL
SX   Male
AG   1Y5M
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 14
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RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
//
RX   PubMed=8823375; DOI=10.1111/1523-1747.ep12584287;
RA   Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J.,
RA   Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W.,
RA   Broughton B.C., Kraemer K.H.;
RT   "DNA repair and ultraviolet mutagenesis in cells from a new patient
RT   with xeroderma pigmentosum group G and Cockayne syndrome resemble
RT   xeroderma pigmentosum cells.";
RL   J. Invest. Dermatol. 107:647-653(1996).
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RX   PubMed=9447232; DOI=10.1016/S0921-8777(97)00031-1;
RA   Okinaka R.T., Perez-Castro A.V., Sena A., Laubscher K., Strniste G.F.,
RA   Park M.S., Hernandez R., MacInnes M.A., Kraemer K.H.;
RT   "Heritable genetic alterations in a xeroderma pigmentosum group
RT   G/Cockayne syndrome pedigree.";
RL   Mutat. Res. 385:107-114(1997).
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RX   PubMed=11841555; DOI=10.1046/j.0022-202x.2001.01673.x;
RA   Lalle P., Nouspikel T., Constantinou A., Thorel F., Clarkson S.G.;
RT   "The founding members of xeroderma pigmentosum group G produce XPG
RT   protein with severely impaired endonuclease activity.";
RL   J. Invest. Dermatol. 118:344-351(2002).
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RX   PubMed=12060391; DOI=10.1046/j.1523-1747.2002.01782.x;
RA   Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D.M.,
RA   Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.-M.,
RA   Crollick J., Inui H., Ueda T., Hedayati M., Grossman L., Shahlavi T.,
RA   Cleaver J.E., Kraemer K.H.;
RT   "Relationship of neurologic degeneration to genotype in three
RT   xeroderma pigmentosum group G patients.";
RL   J. Invest. Dermatol. 118:972-982(2002).
//
RX   PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004; PMCID=PMC533987;
RA   Thorel F., Constantinou A., Dunand-Sauthier I., Nouspikel T.,
RA   Lalle P., Raams A., Jaspers N.G.J., Vermeulen W., Shivji M.K.K.,
RA   Wood R.D., Clarkson S.G.;
RT   "Definition of a short region of XPG necessary for TFIIH interaction
RT   and stable recruitment to sites of UV damage.";
RL   Mol. Cell. Biol. 24:10670-10680(2004).
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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).
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RX   PubMed=19179371; DOI=10.1093/nar/gkp023; PMCID=PMC2651789;
RA   Limsirichaikul S., Niimi A., Fawcett H., Lehmann A.R., Yamashita S.,
RA   Ogi T.;
RT   "A rapid non-radioactive technique for measurement of repair synthesis
RT   in primary human fibroblasts by incorporation of ethynyl deoxyuridine
RT   (EdU).";
RL   Nucleic Acids Res. 37:e31.1-e31.10(2009).
//