ID   XP4LO
AC   CVCL_L757
SY   Xeroderma Pigmentosum 4 LOndon; GM00544; GM-544; GM0544; GM 544; GM544; GM00544B; GM544B
DR   CLO; CLO_0026048
DR   Coriell; GM00544
DR   Wikidata; Q54836302
RX   CelloPub=CLPUB00447;
RX   DOI=10.1007/978-1-4757-1117-2_12;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=273925;
RX   PubMed=837385;
RX   PubMed=1214825;
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=4066782;
RX   PubMed=4778857;
RX   PubMed=6492896;
RX   PubMed=6947227;
RX   PubMed=7067035;
RX   PubMed=7161312;
RX   PubMed=7360141;
RX   PubMed=7471106;
RX   PubMed=7671243;
RX   PubMed=7825573;
RX   PubMed=9671271;
RX   PubMed=11219864;
RX   PubMed=14688028;
RX   PubMed=18079351;
RX   PubMed=18470933;
RX   PubMed=26184184;
CC   Senescence: Senesces at 21 PDL (PubMed=6492896).
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; c.468_469delAA; Zygosity=Homozygous (PubMed=9671271; PubMed=26184184).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.1007/978-1-4757-1117-2_12;
RA   Arlett C.F., Harcourt S.A.;
RT   "The mutagen sensitivity response of cells from individuals
RT   heterozygous for DNA repair deficiency genes.";
RL   (In) The use of human cells for the evaluation of risk from physical and chemical agents; Castellani A. (eds.); pp.155-167; Springer; Boston (1983).
//
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=273925; DOI=10.1073/pnas.75.4.1984;
RA   Andrews A.D., Barrett S.F., Robbins J.H.;
RT   "Xeroderma pigmentosum neurological abnormalities correlate with
RT   colony-forming ability after ultraviolet radiation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978).
//
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=1214825; DOI=10.1016/0027-5107(75)90209-2;
RA   Arlett C.F., Harcourt S.A., Broughton B.C.;
RT   "The influence of caffeine on cell survival in excision-proficient and
RT   excision-deficient xeroderma pigmentosum and normal human cell strains
RT   following ultraviolet-light irradiation.";
RL   Mutat. Res. 33:341-346(1975).
//
RX   PubMed=1372102; DOI=10.1016/0921-8777(92)90080-M;
RA   Satokata I., Tanaka K., Miura N., Narita M., Mimaki T., Satoh Y.,
RA   Kondo S., Okada Y.;
RT   "Three nonsense mutations responsible for group A xeroderma
RT   pigmentosum.";
RL   Mutat. Res. 273:193-202(1992).
//
RX   PubMed=1702221; DOI=10.1073/pnas.87.24.9908;
RA   Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S.,
RA   Okada Y.;
RT   "Characterization of a splicing mutation in group A xeroderma
RT   pigmentosum.";
RL   Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(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=4778857; DOI=10.1016/0027-5107(73)90062-6;
RA   Kleijer W.J., de Weerd-Kastelein E.A., Sluyter M.L., Keijzer W.,
RA   de Wit J., Bootsma D.;
RT   "UV-induced DNA repair synthesis in cells of patients with different
RT   forms of xeroderma pigmentosum and of heterozygotes.";
RL   Mutat. Res. 20:417-428(1973).
//
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=6947227; DOI=10.1073/pnas.78.10.6236;
RA   Miskin R., Ben-Ishai R.;
RT   "Induction of plasminogen activator by UV light in normal and
RT   xeroderma pigmentosum fibroblasts.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:6236-6240(1981).
//
RX   PubMed=7067035; DOI=10.1093/carcin/3.1.33;
RA   Teo I.A., Arlett C.F.;
RT   "The response of a variety of human fibroblast cell strains to the
RT   lethal effects of alkylating agents.";
RL   Carcinogenesis 3:33-37(1982).
//
RX   PubMed=7161312; DOI=10.1007/BF00406246;
RA   Thielmann H.W., Popanda O., Edler L.;
RT   "XP patients from Germany: correlation of colony-forming ability,
RT   unscheduled DNA synthesis and single-strand breaks after UV damage in
RT   xeroderma pigmentosum fibroblasts.";
RL   J. Cancer Res. Clin. Oncol. 104:263-286(1982).
//
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=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=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=7825573;
RA   Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W.,
RA   Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A.,
RA   Cole J., Arlett C.F., Lehmann A.R.;
RT   "Molecular and cellular analysis of the DNA repair defect in a patient
RT   in xeroderma pigmentosum complementation group D who has the clinical
RT   features of xeroderma pigmentosum and Cockayne syndrome.";
RL   Am. J. Hum. Genet. 56:167-174(1995).
//
RX   PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6;
RA   States J.C., McDuffie E.R., Myrand S.P., McDowell M., Cleaver J.E.;
RT   "Distribution of mutations in the human xeroderma pigmentosum group A
RT   gene and their relationships to the functional regions of the DNA
RT   damage recognition protein.";
RL   Hum. Mutat. 12:103-113(1998).
//
RX   PubMed=11219864; DOI=10.1093/carcin/1.9.745;
RA   Arlett C.F., Harcourt S.A., Lehmann A.R., Stevens S.,
RA   Ferguson-Smith M.A., Morley W.N.;
RT   "Studies on a new case of xeroderma pigmentosum (XP3BR) from
RT   complementation group G with cellular sensitivity to ionizing
RT   radiation.";
RL   Carcinogenesis 1:745-751(1980).
//
RX   PubMed=14688028; DOI=10.1093/carcin/bgh046;
RA   Arbault S., Sojic N., Bruce D., Amatore C., Sarasin A., Vuillaume M.;
RT   "Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts.
RT   Real-time and single cell monitoring of superoxide and nitric oxide
RT   production with microelectrodes.";
RL   Carcinogenesis 25:509-515(2004).
//
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=18470933; DOI=10.1002/humu.20768;
RA   Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G.,
RA   Nadem C., DiGiovanna J.J., Kraemer K.H.;
RT   "Persistence of repair proteins at unrepaired DNA damage distinguishes
RT   diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma
RT   pigmentosum vs. non-cancer-prone trichothiodystrophy.";
RL   Hum. Mutat. 29:1194-1208(2008).
//
RX   PubMed=26184184; DOI=10.3390/ijms160715985;
RA   Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.;
RT   "Understanding xeroderma pigmentosum complementation groups using gene
RT   expression profiling after UV-light exposure.";
RL   Int. J. Mol. Sci. 16:15985-15996(2015).
//