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Cellosaurus XP12BE (CVCL_F119)

[Text version]
Cell line name XP12BE
Synonyms XP12 BE; Xeroderma Pigmentosum 12 BEthesda; Jay Tim; Jay-Tim; JayTim; GM05509; GM 5509; GM5509; GM 5509B; GM05509A
Accession CVCL_F119
Resource Identification Initiative To cite this cell line use: XP12BE (RRID:CVCL_F119)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12814; XPA; Simple; c.507-1G>T (IVS3-1G>T); Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=8595429; PubMed=9671271).
  • Mutation; HGNC; HGNC:12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Heterozygous; Note=Also produces mis-splicing (PubMed=9671271; Coriell=GM05509).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_F118 (XP12BESV)
Originate from same individual CVCL_F117 ! XP12BE LCL
Sex of cell Female
Age at sampling 10Y
Category Finite cell line
Publications

PubMed=4811796; DOI=10.7326/0003-4819-80-2-221
Jay H. Robbins, Kenneth H. Kraemer, Marvin A. Lutzner, Barry W. Festoff, Hayden G. Coon;
Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.
Ann. Intern. Med. 80:221-248(1974)

PubMed=273925; DOI=10.1073/pnas.75.4.1984; PMCID=PMC392467
Alan D. Andrews, Susanna F. Barrett, Jay H. Robbins;
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.
Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978)

PubMed=643622; DOI=10.1093/nar/5.3.951; PMCID=PMC342035
Urs Kuhnlein, Betty Lee, Edward E. Penhoet, Stuart M. Linn;
Xeroderma pigmentosum fibroblasts of the D group lack an apurinic DNA endonuclease species with a low apparent Km.
Nucleic Acids Res. 5:951-960(1978)

PubMed=656543; DOI=10.1016/S0006-3495(78)85487-3; PMCID=PMC1473442
Ursula Kristin Ehmann, Kem H. Cook, Errol Clive Friedberg;
The kinetics of thymine dimer excision in ultraviolet-irradiated human cells.
Biophys. J. 22:249-264(1978)

PubMed=450131; DOI=10.1038/279797a0
Rufus S. Day 3rd, Chuck H.J. Ziolkowski;
Human brain tumour cell strains with deficient host-cell reactivation of N-methyl-N'-nitro-N-nitrosoguanidine-damaged adenovirus 5.
Nature 279:797-799(1979)

PubMed=7374661; DOI=10.1016/0027-5107(80)90164-5
John Bertram Little, John Nove, Ralph R. Weichselbaum;
Abnormal sensitivity of diploid skin fibroblasts from a family with Gardner's syndrome to the lethal effects of X-irradiation, ultraviolet light and mitomycin-C.
Mutat. Res. 70:241-250(1980)

PubMed=7471105
Ralph R. Weichselbaum, John Nove, John Bertram Little;
X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders.
Cancer Res. 40:920-925(1980)

PubMed=7273335; DOI=10.1093/carcin/2.6.567
Louise Simon, Royce M. Hazard, Veronica M. Maher, J. Justin McCormick;
Enhanced cell killing and mutagenesis by ethylnitrosourea in xeroderma pigmentosum cells.
Carcinogenesis 2:567-570(1981)

PubMed=7161312; DOI=10.1007/BF00406246
Heinz Walter Thielmann, Odilia Popanda, Lutz Edler;
XP patients from Germany: correlation of colony-forming ability, unscheduled DNA synthesis and single-strand breaks after UV damage in xeroderma pigmentosum fibroblasts.
J. Cancer Res. Clin. Oncol. 104:263-286(1982)

PubMed=3724780; DOI=10.1016/0167-8817(86)90043-x
George J. Kantor, Audrey N. Player;
A further definition of characteristics of DNA-excision repair in xeroderma pigmentosum complementation group A strains.
Mutat. Res. 166:79-88(1986)

PubMed=2657812; DOI=10.1111/j.1751-1097.1989.tb09205.x
Toshio Mori, Altaf Ahmad Wani, Steven M. D'Ambrosio, Chia-Cheng Chang, James Edward Trosko;
In situ pyrimidine dimer determination by laser cytometry.
Photochem. Photobiol. 49:523-526(1989)

PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283
Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Iwai Miyamoto, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada;
Characterization of a splicing mutation in group A xeroderma pigmentosum.
Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990)

PubMed=2065254; DOI=10.1093/brain/114.3.1335
Jay H. Robbins, Roger Alan Brumback, Marlene Mendiones, Susanna F. Barrett, James R. Carl, Sechin Cho, Martha Bridge Denckla, Mary Bruce Ganges, Lynn H. Gerber, Richard A. Guthrie, Jacob Meer ...Show all 16 authors... , Alan N. Moshell, Ronald J. Polinsky, Paula D. Ravin, Barbara C. Sonies, Robert E. Tarone; Show fewer authors
Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form.
Brain 114:1335-1361(1991)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=1372102; DOI=10.1016/0921-8777(92)90080-M
Ichiro Satokata, Kiyoji Tanaka, Naoyuki Miura, Masashi Narita, Takashi Mimaki, Yoshiaki Satoh, Seiji Kondo, Yoshio Okada;
Three nonsense mutations responsible for group A xeroderma pigmentosum.
Mutat. Res. 273:193-202(1992)

PubMed=8595429; DOI=10.1093/hmg/4.10.1993
Ichiro Satokata, Makoto Uchiyama, Kiyoji Tanaka;
Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.
Hum. Mol. Genet. 4:1993-1994(1995)

PubMed=8643543; DOI=10.1073/pnas.93.10.5146; PMCID=PMC39422
Ram Parshad, Katherine Koontz Sanford, Floyd M. Price, Lynn K. Melnick, Linda E. Nee, Mark B. Schapiro, Robert E. Tarone, Jay H. Robbins;
Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture.
Proc. Natl. Acad. Sci. U.S.A. 93:5146-5150(1996)

PubMed=8823375; DOI=10.1111/1523-1747.ep12584287
Shin-ichi Moriwaki, Miria Stefanini, Alan R. Lehmann, Jan Hendrik Jozef Hoeijmakers, Jay H. Robbins, Isabelle Rapin, Elena Botta, Bianca Tanganelli, Wim Vermeulen, Bernard C. Broughton, Kenneth H. Kraemer;
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells.
J. Invest. Dermatol. 107:647-653(1996)

PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6
J. Christopher States, E.R. McDuffie, Scott P. Myrand, Mindy L. McDowell, James Edward Cleaver;
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
Hum. Mutat. 12:103-113(1998)

PubMed=15744458; DOI=10.1007/s10038-004-0228-2
Andrew J. Ridley, James Colley, David Wynford-Thomas, Christopher J. Jones;
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.
J. Hum. Genet. 50:151-154(2005)

Cross-references
Cell line collections (Providers) ATCC; CRL-1223 - Discontinued
Coriell; GM05509
Cell line databases/resources CLO; CLO_0024800
Encyclopedic resources Wikidata; Q54839029
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number24