ID   XP11BE
AC   CVCL_U690
SY   Xeroderma Pigmentosum 11 BEthesda; CS4BE; XP-CS-1; Po Co
DR   ATCC; CRL-1199
DR   Wikidata; Q54947691
RX   PubMed=837385;
RX   PubMed=1034206;
RX   PubMed=2175267;
RX   PubMed=4066782;
RX   PubMed=4811796;
RX   PubMed=9012405;
RX   PubMed=9579555;
RX   PubMed=15572672;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3435; ERCC3; Simple; p.Phe270Ter (c.807_808delTT); Zygosity=Heterozygous (from autologous cell line XP11BE LCL).
CC   Sequence variation: Mutation; HGNC; 3435; ERCC3; Simple; p.Gln739fs*42 (c.2218-6C>A) (IVS14-6C>A); Zygosity=Heterozygous (from autologous cell line XP11BE LCL).
CC   Discontinued: ATCC; CRL-1199; true.
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_L460 ! XP11BE LCL
SX   Female
AG   31Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 02-05-24; Version: 17
//
RX   PubMed=837385;
RA   Lehmann A.R., Kirk-Bell S., Arlett C.F., Harcourt S.A.,
RA   de Weerd-Kastelein E.A., Keijzer W., Hall-Smith P.;
RT   "Repair of ultraviolet light damage in a variety of human fibroblast
RT   cell strains.";
RL   Cancer Res. 37:904-910(1977).
//
RX   PubMed=1034206; DOI=10.1016/0027-5107(76)90044-0;
RA   de Weerd-Kastelein E.A., Keijzer W., Sabour M., Parrington J.M.,
RA   Bootsma D.;
RT   "A xeroderma pigmentosum patient having a high residual activity of
RT   unscheduled DNA synthesis after UV is assigned to complementation
RT   group A.";
RL   Mutat. Res. 37:307-312(1976).
//
RX   PubMed=2175267; DOI=10.1016/0014-4827(90)90012-Y;
RA   Klein B., Pastink A., Odijk H., Westerveld A., van der Eb A.J.;
RT   "Transformation and immortalization of diploid xeroderma pigmentosum
RT   fibroblasts.";
RL   Exp. Cell Res. 191:256-262(1990).
//
RX   PubMed=4066782; DOI=10.1242/jcs.76.1.115;
RA   Johnson R.T., Squires S., Elliott G.C., Koch G.L.E., Rainbow A.J.;
RT   "Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet
RT   sensitivity associated with normal and diminished DNA repair ability,
RT   respectively.";
RL   J. Cell Sci. 76:115-133(1985).
//
RX   PubMed=4811796; DOI=10.7326/0003-4819-80-2-221;
RA   Robbins J.H., Kraemer K.H., Lutzner M.A., Festoff B.W., Coon H.G.;
RT   "Xeroderma pigmentosum. An inherited disease with sun sensitivity,
RT   multiple cutaneous neoplasms, and abnormal DNA repair.";
RL   Ann. Intern. Med. 80:221-248(1974).
//
RX   PubMed=9012405;
RA   Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O.,
RA   Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.;
RT   "A mutation in the XPB/ERCC3 DNA repair transcription gene, associated
RT   with trichothiodystrophy.";
RL   Am. J. Hum. Genet. 60:320-329(1997).
//
RX   PubMed=9579555; DOI=10.1046/j.1523-1747.1998.00171.x;
RA   Sijbers A.M., van Voorst Vader P.C., Snoek J.W., Raams A.,
RA   Jaspers N.G.J., Kleijer W.J.;
RT   "Homozygous R788W point mutation in the XPF gene of a patient with
RT   xeroderma pigmentosum and late-onset neurologic disease.";
RL   J. Invest. Dermatol. 110:832-836(1998).
//
RX   PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004;
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).
//