ID   XP12BE
AC   CVCL_F119
SY   XP12 BE; Xeroderma Pigmentosum 12 BEthesda; Jay Tim; Jay-Tim; JayTim; GM05509; GM 5509; GM5509; GM 5509B; GM05509A
DR   CLO; CLO_0024800
DR   ATCC; CRL-1223
DR   Coriell; GM05509
DR   Wikidata; Q54839029
RX   CelloPub=CLPUB00447;
RX   PubMed=273925;
RX   PubMed=450131;
RX   PubMed=643622;
RX   PubMed=656543;
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=2065254;
RX   PubMed=2657812;
RX   PubMed=3724780;
RX   PubMed=4811796;
RX   PubMed=7161312;
RX   PubMed=7273335;
RX   PubMed=7374661;
RX   PubMed=7471105;
RX   PubMed=8595429;
RX   PubMed=8643543;
RX   PubMed=8823375;
RX   PubMed=9671271;
RX   PubMed=15744458;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; c.507-1G>T (IVS3-1G>T); Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=8595429; PubMed=9671271).
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Heterozygous; Note=Also produces mis-splicing (PubMed=9671271; Coriell=GM05509).
CC   Discontinued: ATCC; CRL-1223; true.
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)
OI   CVCL_F117 ! XP12BE LCL
SX   Female
AG   10Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 23
//
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   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=450131; DOI=10.1038/279797a0;
RA   Day R.S. III, Ziolkowski C.H.J.;
RT   "Human brain tumour cell strains with deficient host-cell reactivation
RT   of N-methyl-N'-nitro-N-nitrosoguanidine-damaged adenovirus 5.";
RL   Nature 279:797-799(1979).
//
RX   PubMed=643622; DOI=10.1093/nar/5.3.951;
RA   Kuhnlein U., Lee B., Penhoet E.E., Linn S.M.;
RT   "Xeroderma pigmentosum fibroblasts of the D group lack an apurinic DNA
RT   endonuclease species with a low apparent Km.";
RL   Nucleic Acids Res. 5:951-960(1978).
//
RX   PubMed=656543; DOI=10.1016/S0006-3495(78)85487-3;
RA   Ehmann U.K., Cook K.H., Friedberg E.C.;
RT   "The kinetics of thymine dimer excision in ultraviolet-irradiated
RT   human cells.";
RL   Biophys. J. 22:249-264(1978).
//
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=2065254; DOI=10.1093/brain/114.3.1335;
RA   Robbins J.H., Brumback R.A., Mendiones M., Barrett S.F., Carl J.R.,
RA   Cho S., Denckla M.B., Ganges M.B., Gerber L.H., Guthrie R.A., Meer J.,
RA   Moshell A.N., Polinsky R.J., Ravin P.D., Sonies B.C., Tarone R.E.;
RT   "Neurological disease in xeroderma pigmentosum. Documentation of a
RT   late onset type of the juvenile onset form.";
RL   Brain 114:1335-1361(1991).
//
RX   PubMed=2657812; DOI=10.1111/j.1751-1097.1989.tb09205.x;
RA   Mori T., Wani A.A., D'Ambrosio S.M., Chang C.-C., Trosko J.E.;
RT   "In situ pyrimidine dimer determination by laser cytometry.";
RL   Photochem. Photobiol. 49:523-526(1989).
//
RX   PubMed=3724780; DOI=10.1016/0167-8817(86)90043-x;
RA   Kantor G.J., Player A.N.;
RT   "A further definition of characteristics of DNA-excision repair in
RT   xeroderma pigmentosum complementation group A strains.";
RL   Mutat. Res. 166:79-88(1986).
//
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=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=7273335; DOI=10.1093/carcin/2.6.567;
RA   Simon L., Hazard R.M., Maher V.M., McCormick J.J.;
RT   "Enhanced cell killing and mutagenesis by ethylnitrosourea in
RT   xeroderma pigmentosum cells.";
RL   Carcinogenesis 2:567-570(1981).
//
RX   PubMed=7374661; DOI=10.1016/0027-5107(80)90164-5;
RA   Little J.B., Nove J., Weichselbaum R.R.;
RT   "Abnormal sensitivity of diploid skin fibroblasts from a family with
RT   Gardner's syndrome to the lethal effects of X-irradiation, ultraviolet
RT   light and mitomycin-C.";
RL   Mutat. Res. 70:241-250(1980).
//
RX   PubMed=7471105;
RA   Weichselbaum R.R., Nove J., Little J.B.;
RT   "X-ray sensitivity of fifty-three human diploid fibroblast cell
RT   strains from patients with characterized genetic disorders.";
RL   Cancer Res. 40:920-925(1980).
//
RX   PubMed=8595429; DOI=10.1093/hmg/4.10.1993;
RA   Satokata I., Uchiyama M., Tanaka K.;
RT   "Two novel splicing mutations in the XPA gene in patients with group A
RT   xeroderma pigmentosum.";
RL   Hum. Mol. Genet. 4:1993-1994(1995).
//
RX   PubMed=8643543; DOI=10.1073/pnas.93.10.5146;
RA   Parshad R., Sanford K.K., Price F.M., Melnick L.K., Nee L.E.,
RA   Schapiro M.B., Tarone R.E., Robbins J.H.;
RT   "Fluorescent light-induced chromatid breaks distinguish Alzheimer
RT   disease cells from normal cells in tissue culture.";
RL   Proc. Natl. Acad. Sci. U.S.A. 93:5146-5150(1996).
//
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).
//
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=15744458; DOI=10.1007/s10038-004-0228-2;
RA   Ridley A.J., Colley J., Wynford-Thomas D., Jones C.J.;
RT   "Characterisation of novel mutations in Cockayne syndrome type A and
RT   xeroderma pigmentosum group C subjects.";
RL   J. Hum. Genet. 50:151-154(2005).
//