NA05509
DNA from Fibroblast
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
7.36 |
| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 1 |
missplice; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
| Identified Mutation |
555G>C |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 2 |
missplice; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
| Identified Mutation |
G>T transversion in intron 3 |
| Remarks |
Multiple skin cancers; acute sun sensitivity; nervous system involvement with progressive neurological degeneration; the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 with results in a missplice; the second allele carries a G-to-T transversion in intron 3 which abolishes the canonical 3-prime splice site and results in a missplice; XP12BE; < 2% of normal UV induced unscheduled DNA synthesis; see GM02250 (lymphoblast) and GM04429 (SV40 transformed fibroblast). |
| Wang QE, Han C, Zhao R, Wani G, Zhu Q, Gong L, Battu A, Racoma I, Sharma N, Wani AA, p38 MAPK- and Akt-mediated p300 phosphorylation regulates its degradation to facilitate nucleotide excision repair Nucleic acids research41:1722-33 2012 |
| PubMed ID: 23275565 |
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| Meeran SM, Mantena SK, Elmets CA, Katiyar SK, (-)-Epigallocatechin-3-gallate prevents photocarcinogenesis in mice through interleukin-12-dependent DNA repair Cancer research66:5512-20 2006 |
| PubMed ID: 16707481 |
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| Meeran SM, Mantena SK, Katiyar SK, Prevention of ultraviolet radiation-induced immunosuppression by (-)-epigallocatechin-3-gallate in mice is mediated through interleukin 12-dependent DNA repair Clinical cancer research : an official journal of the American Association for Cancer Research12:2272-80 2006 |
| PubMed ID: 16609044 |
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| Wang QE, Zhu Q, Wani G, El-Mahdy MA, Li J, Wani AA, DNA repair factor XPC is modified by SUMO-1 and ubiquitin following UV irradiation Nucleic acids research33:4023-34 2005 |
| PubMed ID: 16030353 |
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| Ridley AJ, Colley J, Wynford-Thomas D, Jones CJ, Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects Journal of human genetics50:151-4 2004 |
| PubMed ID: 15744458 |
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| Rapic-Otrin V, McLenigan MP, Bisi DC, Gonzalez M, Levine AS, Sequential binding of UV DNA damage binding factor and degradation of the p48 subunit as early events after UV irradiation. Nucleic Acids Res30(11):2588-98 2002 |
| PubMed ID: 12034848 |
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| Katsumi S, Kobayashi N, Imoto K, Nakagawa A, Yamashina Y, Muramatsu T, Shirai T, Miyagawa S, Sugiura S, Hanaoka F, Matsunaga T, Nikaido O, Mori T, In situ visualization of ultraviolet-light-induced DNA damage repair in locally irradiated human fibroblasts. J Invest Dermatol117(5):1156-61 2001 |
| PubMed ID: 11710927 |
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| Dittmann KH, Dikomey E, Mayer C, Rodemann HP, The Bowman-Birk protease inhibitor enhances clonogenic cell survival of ionizing radiation-treated nucleotide excision repair-competent cells but not of xeroderma pigmentosum cells. Int J Radiat Biol76(2):223-9 2000 |
| PubMed ID: 10716643 |
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| Thielmann HW, Popanda O, Staab HJ, Subnuclear distribution of DNA topoisomerase I and Bax protein in normal and xeroderma pigmentosum fibroblasts after irradiation with UV light and gamma rays or treatment with topotecan. J Cancer Res Clin Oncol125:193-208 1999 |
| PubMed ID: 10235474 |
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| Ali RB, Teo AK, Oh HK, Chuang LS, Ayi TC, Li BF, Implication of localization of human DNA repair enzyme O6-methylguanine-DNA methyltransferase at active transcription sites in transcription-repair coupling of the mutagenic O6-methylguanine lesion. Mol Cell Biol18:1660-9 1998 |
| PubMed ID: 9488483 |
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| States JC, McDuffie ER, Myrand SP, McDowell M, Cleaver JE, 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 Mutat12:103-13 1998 |
| PubMed ID: 9671271 |
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| Thielmann HW, Popanda O, Irradiation with ultraviolet light and -rays increases the level of DNA
topoisomerase II in nuclei of normal and xeroderma pigmentosum fibroblasts. Int J Oncol12(2):265-71 1998 |
| PubMed ID: 9458348 |
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| Thielmann HW, Popanda O, Doxorubicin and gamma rays increase the level of DNA topoisomerase IIalpha in nuclei of normal and xeroderma pigmentosum fibroblasts. J Cancer Res Clin Oncol124:355-66 1998 |
| PubMed ID: 9719498 |
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| Cheng L, Bucana CD, Wei Q, Fluorescence in situ hybridization method for measuring transfection efficiency. Biotechniques21(3):486-91 1996 |
| PubMed ID: 8879589 |
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| Davis K, Tomkins DJ, Rainbow AJ, Roberts syndrome fibroblasts showing cisplatin hypersensitivity have normal host cell reactivation of cisplatin-treated adenovirus and normal capacity of cisplatin-treated cells for adenovirus DNA synthesis. Somat Cell Mol Genet22:393-402 1996 |
| PubMed ID: 9039848 |
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| Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JH, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC, Kraemer KH, 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 Dermatol107(4):647-53 1996 |
| PubMed ID: 8823375 |
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| Parshad RP, Sanford KK, Price FM, Melnick LK, Nee LE, Schapiro MB, Tarone RE, Robbins JH, Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture. Proc Natl Acad Sci U S A93:5146-50 1996 |
| PubMed ID: 8643543 |
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| States JC, Myrand SP, Splice site mutations in a xeroderma pigmentosum group A patient with delayed onset of neurological disease. Mutat Res363:171-7 1996 |
| PubMed ID: 8765158 |
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| Matsuda T, Saijo M, Kuraoka I, Kobayashi T, Nakatsu Y, Nagai A, Enjoji T, Masutani C, Sugasawa K, Hanaoka F, et al, DNA repair protein XPA binds replication protein A (RPA). J Biol Chem270:4152-7 1995 |
| PubMed ID: 7876167 |
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| Satokata I, Uchiyama M, Tanaka K, Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum. Hum Mol Genet4:1993-4 1995 |
| PubMed ID: 8595429 |
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| Jones CJ, Lloyd RS, Wood RD, Analysis of cells harboring a putative DNA repair gene reveals a lack of
evidence for a second independent xeroderma pigmentosum group A correcting gene. Mutat Res324(4):159-64 1994 |
| PubMed ID: 7519740 |
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| Dypbukt JM, Atzori L, Edman CC, Grafstrom RC, Thiol status and cytopathological effects of acrolein in normal and xeroderma
pigmentosum skin fibroblasts. Carcinogenesis14(5):975-80 1993 |
| PubMed ID: 8504492 |
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| Leadon SA, Cooper PK, Preferential repair of ionizing radiation-induced damage in the transcribed strand of an active human gene is defective in Cockayne syndrome. Proc Natl Acad Sci U S A90(22):10499-503 1993 |
| PubMed ID: 8248136 |
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| Lu X, Lane DP, Differential induction of transcriptionally active p53 following UV or ionizing radiation: defects in chromosome instability syndromes? Cell75:765-78 1993 |
| PubMed ID: 8242748 |
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| Chen RH, Maher VM, McCormick JJ, Lack of a cell cycle-dependent strand bias for mutations induced in the HPRT
gene by (+/-)-7 beta,8 alpha-dihydroxy-9 alpha,10
alpha-epoxy-7,8,9,10-tetrahydrobenzo(a)pyrene in excision repair-deficient human
cells. Cancer Res51(10):2587-92 1991 |
| PubMed ID: 1902394 |
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| Colicos MA, Haj-Ahmad Y, Valerie K, Henderson EE, Rainbow AJ, Construction of a recombinant adenovirus containing the denV gene from bacteriophage T4 which can partially restore the DNA repair deficiency in xeroderma pigmentosum fibroblasts. Carcinogenesis12:249-55 1991 |
| PubMed ID: 1704821 |
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| Kochevar IE, Walsh AA, Green HA, Sherwood M, Shih AG, Sutherland BM, DNA damage induced by 193-nm radiation in mammalian cells. Cancer Res51:288-93 1991 |
| PubMed ID: 1988091 |
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| McGregor WG, Chen RH, Lukash L, Maher VM, McCormick JJ, Cell cycle-dependent strand bias for UV-induced mutations in the transcribed
strand of excision repair-proficient human fibroblasts but not in
repair-deficient cells. Mol Cell Biol11(4):1927-34 1991 |
| PubMed ID: 2005888 |
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| Mirzayans R, Paterson MC, Differential repair of 1-beta-D-arabinofuranosylcytosine-detectable sites in DNA
of human fibroblasts exposed to ultraviolet light and 4-nitroquinoline 1-oxide. Mutat Res255(1):57-65 1991 |
| PubMed ID: 1906130 |
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| Mirzayans R, Paterson MC, Dose-dependent increase in repair of
1-beta-D-arabinofuranosylcytosine-detectable DNA lesions in UV-treated xeroderma
pigmentosum (group A) fibroblasts. Mutat Res262(3):151-7 1991 |
| PubMed ID: 2002813 |
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| Seetharam S, Kraemer KH, Waters HL, Seidman MM, Ultraviolet mutational spectrum in a shuttle vector propagated in xeroderma pigmentosum lymphoblastoid cells and fibroblasts. Mutat Res254:97-105 1991 |
| PubMed ID: 1986277 |
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| Wilson VL, Foiles PG, Chung FL, Povey AC, Frank AA, Harris CC, Detection of acrolein and crotonaldehyde DNA adducts in cultured human cells and canine peripheral blood lymphocytes by 32P-postlabeling and nucleotide chromatography. Carcinogenesis12:1483-90 1991 |
| PubMed ID: 1860170 |
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| Cheng RZ, Murano S, Kurz B, Shmookler Reis RJ, Homologous recombination is elevated in some Werner-like syndromes but not during normal in vitro or in vivo senescence of mammalian cells. Mutat Res237:259-69 1990 |
| PubMed ID: 2079965 |
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| Rinaldy A, Bellew T, Egli E, Lloyd RS, Increased UV resistance in xeroderma pigmentosum group A cells after transformation with a human genomic DNA clone. Proc Natl Acad Sci U S A87:6818-22 1990 |
| PubMed ID: 2168562 |
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| Seetharam S, Kraemer KH, Waters HL, Seidman MM, Mutational hotspot variability in an ultraviolet-treated shuttle vector plasmid
propagated in xeroderma pigmentosum and normal human lymphoblasts and
fibroblasts. J Mol Biol212(3):433-6 1990 |
| PubMed ID: 2182882 |
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| Mirzayans R, Liuzzi M, Paterson MC, Methylmethanesulfonate-induced DNA damage and its repair in cultured human
fibroblasts: normal rates of induction and removal of alkali-labile sites in
xeroderma pigmentosum (group A) cells. Carcinogenesis9(12):2257-63 1988 |
| PubMed ID: 3191570 |
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| Kantor GJ, Player AN, A further definition of characteristics of DNA-excision repair in xeroderma
pigmentosum complementation group A strains. Mutat Res166(1):79-88 1986 |
| PubMed ID: 3724780 |
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| Van Houten B, Masker WE, Carrier WL, Regan JD, Quantitation of carcinogen-induced DNA damage and repair in human cells with the
UVR ABC excision nuclease from Escherichia coli. Carcinogenesis7(1):83-7 1986 |
| PubMed ID: 3080255 |
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| Mirzayans R, Paterson MC, Waters R, Defective repair of a class of 4NQO-induced alkali-labile DNA lesions in xeroderma pigmentosum complementation group A fibroblasts. Carcinogenesis6:555-9 1985 |
| PubMed ID: 3921271 |
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| Domoradzki J, Pegg AE, Dolan ME, Maher VM, McCormick JJ, Correlation between O6-methylguanine-DNA-methyltransferase activity and resistance of human cells to the cytotoxic and mutagenic effect of N- methyl-N'-nitro-N-nitrosoguanidine. Carcinogenesis5:1641-7 1984 |
| PubMed ID: 6499116 |
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| Gantt R, Taylor WG, Camalier RF, Stephens EV, Repair of DNA-protein cross-links in an excision repair-deficient human cell line and its simian virus 40-transformed derivative. Cancer Res44:1809-12 1984 |
| PubMed ID: 6324989 |
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| Kantor GJ, Hull DR, The rate of removal of pyrimidine dimers in quiescent cultures of normal human
and xeroderma pigmentosum cells. Mutat Res132(1-2):21-31 1984 |
| PubMed ID: 6472315 |
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| Mahoney EM, Ball JC, Swenson DH, Richmond D, Maher VM, McCormick JJ, Cytotoxicity and mutagenicity of aflatoxin dichloride in normal and repair
deficient diploid human fibroblasts. Chem Biol Interact50(1):59-76 1984 |
| PubMed ID: 6428759 |
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| Fornace AJ, Seres DS, Detection of DNA single-strand breaks during the repair of UV damage in
xeroderma pigmentosum cells. Radiat Res93(1):107-11 1983 |
| PubMed ID: 6823503 |
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| Hull DR, Kantor GJ, Evidence that DNA excision-repair in xeroderma pigmentosum group A is limited
but biologically significant. Mutat Res112(3):169-79 1983 |
| PubMed ID: 6306455 |
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| Robbins JH, Polinsky RJ, Moshell AN, Evidence that lack of deoxyribonucleic acid repair causes death of neurons in xeroderma pigmentosum. Ann Neurol13:682-4 1983 |
| PubMed ID: 6881931 |
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| Konze-Thomas B, Hazard RM, Maher VM, McCormick JJ, Extent of excision repair before DNA synthesis determines the mutagenic but not
the lethal effect of UV radiation. Mutat Res94(2):421-34 1982 |
| PubMed ID: 7110182 |
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| Yang LL, Maher VM, McCormick JJ, Relationship between excision repair and the cytotoxic and mutagenic effect of
the 'anti' 7,8-diol-9,10-epoxide of benzo[a]pyrene in human cells. Mutat Res94(2):435-47 1982 |
| PubMed ID: 6810167 |
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| Kantor GJ, Setlow RB, Rate and extent of DNA repair in nondividing human diploid fibroblasts. Cancer Res41(3):819-25 1981 |
| PubMed ID: 7459869 |
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| Nishiyama Y, Rapp F, Enhanced capacity of DNA repair in human cytomegalovirus-infected cells. J Virol38(1):164-72 1981 |
| PubMed ID: 6264099 |
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| Simon L, Hazard RM, Maher VM, McCormick JJ, Enhanced cell killing and mutagenesis by ethylnitrosourea in xeroderma pigmentosum cells. Carcinogenesis2:567-70 1981 |
| PubMed ID: 7273335 |
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| Aust AE, Falahee KJ, Maher VM, McCormick JJ, Human cell-mediated benzo(a)pyrene cytotoxicity and mutagenicity in human
diploid fibroblasts. Cancer Res40(11):4070-5 1980 |
| PubMed ID: 6258771 |
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| Heflich RH, Hazard RM, Lommel L, Scribner JD, Maher VM, McCormick JJ, A comparison of the DNA binding, cytotoxicity and repair synthesis induced in
human fibroblasts by reactive derivatives of aromatic amide carcinogens. Chem Biol Interact29(1):43-56 1980 |
| PubMed ID: 7356535 |
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| Kaye J, Smith CA, Hanawalt PC, DNA repair in human cells containing photoadducts of 8-methoxypsoralen or
angelicin. Cancer Res40(3):696-702 1980 |
| PubMed ID: 7471088 |
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| Yang LL, Maher VM, McCormick JJ, Error-free excision of the cytotoxic,mutagenic N2-deoxyguanosine DNA adduct
formed in human fibroblasts by (+/-)-7 beta, 8 alpha-dihydroxy-9 alpha, 10
alpha-epoxy-7,8,9,10-tetrahydrobenzo[a]pyrene. Proc Natl Acad Sci U S A77(10):5933-7 1980 |
| PubMed ID: 6934524 |
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| Coppey J, Nocentini S, Survival and herpes virus production of normal and xeroderma pigmentosum
fibroblasts after treatment with formaldehyde. Mutat Res62(2):355-61 1979 |
| PubMed ID: 228186 |
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| Kantor GJ, Hull DR, An effect of ultraviolet light on RNA and protein synthesis in nondividing human
diploid fibroblasts. Biophys J27(3):359-70 1979 |
| PubMed ID: 95567 |
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| Maher VM, Dorney DJ, Mendrala AL, Konze-Thomas B, McCormick JJ, DNA excision-repair processes in human cells can eliminate the cytotoxic and
mutagenic consequences of ultraviolet irradiation. Mutat Res62(2):311-23 1979 |
| PubMed ID: 503098 |
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| McCaw BA, Dipple A, Young S, Roberts JJ, Excision of hydrocarbon-DNA adducts and consequent cell survival in normal and
repair defective human cells. Chem Biol Interact22(2-3):139-51 1978 |
| PubMed ID: 699169 |
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| Sutherland BM, Oliver R, Culture conditions affect photoreactivating enzyme levels in human fibroblasts. Biochim Biophys Acta442(3):358-67 1976 |
| PubMed ID: 963054 |
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| Sutherland BM, Oliver R, Fuselier CO, Sutherland JC, Photoreactivation of pyrimidine dimers in the DNA of normal and xeroderma
pigmentosum cells. Biochemistry15(2):402-6 1976 |
| PubMed ID: 1247526 |
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| Kraemer KH, Coon HG, Petinga RA, Barrett SF, Rahe AE, Robbins JH, Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates. Proc Natl Acad Sci U S A72:59-63 1975 |
| PubMed ID: 164028 |
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| Maher VM, Birch N, Otto JR, MacCormick JJ, Cytotoxicity of carcinogenic aromatic amides in normal and xeroderma pigmentosum
fibroblasts with different DNA repair capabilities. J Natl Cancer Inst54(6):1287-94 1975 |
| PubMed ID: 1133846 |
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| Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG, Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med80:221-48 1974 |
| PubMed ID: 4811796 |
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