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; 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; 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: 19-12-24; Version: 24
CH   CVCL_F118 ! XP12BESV
//
RX   PubMed=450131; DOI=10.1038/279797a0;
RA   Day, Rufus S. 3rd
RA   Ziolkowski, Chuck 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; PMCID=PMC342035;
RA   Kuhnlein, Urs
RA   Lee, Betty
RA   Penhoet, Edward E.
RA   Linn, Stuart 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=2657812; DOI=10.1111/j.1751-1097.1989.tb09205.x;
RA   Mori, Toshio
RA   Wani, Altaf Ahmad
RA   D'Ambrosio, Steven M.
RA   Chang, Chia-Cheng
RA   Trosko, James Edward
RT   "In situ pyrimidine dimer determination by laser cytometry.";
RL   Photochem. Photobiol. 49:523-526(1989).
//
RX   PubMed=7374661; DOI=10.1016/0027-5107(80)90164-5;
RA   Little, John Bertram
RA   Nove, John
RA   Weichselbaum, Ralph 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, Ralph R.
RA   Nove, John
RA   Little, John Bertram
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=8643543; DOI=10.1073/pnas.93.10.5146; PMCID=PMC39422;
RA   Parshad, Ram
RA   Sanford, Katherine Koontz
RA   Price, Floyd M.
RA   Melnick, Lynn K.
RA   Nee, Linda E.
RA   Schapiro, Mark B.
RA   Tarone, Robert E.
RA   Robbins, Jay 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=15744458; DOI=10.1007/s10038-004-0228-2;
RA   Ridley, Andrew J.
RA   Colley, James
RA   Wynford-Thomas, David
RA   Jones, Christopher 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).
//
RX   PubMed=8823375; DOI=10.1111/1523-1747.ep12584287;
RA   Moriwaki, Shin-ichi
RA   Stefanini, Miria
RA   Lehmann, Alan Robert
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Robbins, Jay H.
RA   Rapin, Isabelle
RA   Botta, Elena
RA   Tanganelli, Bianca
RA   Vermeulen, Wim
RA   Broughton, Bernard C.
RA   Kraemer, Kenneth 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=656543; DOI=10.1016/S0006-3495(78)85487-3; PMCID=PMC1473442;
RA   Ehmann, Ursula Kristin
RA   Cook, Kem H.
RA   Friedberg, Errol Clive
RT   "The kinetics of thymine dimer excision in ultraviolet-irradiated
RT   human cells.";
RL   Biophys. J. 22:249-264(1978).
//
RX   PubMed=273925; DOI=10.1073/pnas.75.4.1984; PMCID=PMC392467;
RA   Andrews, Alan D.
RA   Barrett, Susanna F.
RA   Robbins, Jay 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=1372102; DOI=10.1016/0921-8777(92)90080-M;
RA   Satokata, Ichiro
RA   Tanaka, Kiyoji
RA   Miura, Naoyuki
RA   Narita, Masashi
RA   Mimaki, Takashi
RA   Satoh, Yoshiaki
RA   Kondo, Seiji
RA   Okada, Yoshio
RT   "Three nonsense mutations responsible for group A xeroderma
RT   pigmentosum.";
RL   Mutat. Res. 273:193-202(1992).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283;
RA   Satokata, Ichiro
RA   Tanaka, Kiyoji
RA   Miura, Naoyuki
RA   Miyamoto, Iwai
RA   Satoh, Yoshiaki
RA   Kondo, Seiji
RA   Okada, Yoshio
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=7161312; DOI=10.1007/BF00406246;
RA   Thielmann, Heinz Walter
RA   Popanda, Odilia
RA   Edler, Lutz
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, Louise
RA   Hazard, Royce M.
RA   Maher, Veronica M.
RA   McCormick, J. Justin
RT   "Enhanced cell killing and mutagenesis by ethylnitrosourea in
RT   xeroderma pigmentosum cells.";
RL   Carcinogenesis 2:567-570(1981).
//
RX   PubMed=8595429; DOI=10.1093/hmg/4.10.1993;
RA   Satokata, Ichiro
RA   Uchiyama, Makoto
RA   Tanaka, Kiyoji
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=2065254; DOI=10.1093/brain/114.3.1335;
RA   Robbins, Jay H.
RA   Brumback, Roger Alan
RA   Mendiones, Marlene
RA   Barrett, Susanna F.
RA   Carl, James R.
RA   Cho, Sechin
RA   Denckla, Martha Bridge
RA   Ganges, Mary Bruce
RA   Gerber, Lynn H.
RA   Guthrie, Richard A.
RA   Meer, Jacob
RA   Moshell, Alan N.
RA   Polinsky, Ronald J.
RA   Ravin, Paula D.
RA   Sonies, Barbara C.
RA   Tarone, Robert 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=3724780; DOI=10.1016/0167-8817(86)90043-x;
RA   Kantor, George J.
RA   Player, Audrey 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, Jay H.
RA   Kraemer, Kenneth H.
RA   Lutzner, Marvin A.
RA   Festoff, Barry William
RA   Coon, Hayden Gaylord
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=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6;
RA   States, J. Christopher
RA   McDuffie, E.R.
RA   Myrand, Scott P.
RA   McDowell, Mindy L.
RA   Cleaver, James Edward
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).
//