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 |
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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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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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Biochemical characterization after cell line submission to CCR
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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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| Passage Frozen |
14 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 1 |
278700.0005; XERODERMA PIGMENTOSUM, TYPE A |
| Identified Mutation |
ARG207TER; In a Palestinian patient with severe symptoms of XP, Satokata et al. [Mutat. Res. 273: 193-202, (1992)] found homozygosity for a nucleotide transition altering the arg207 codon (CGA) to a nonsense codon (TGA). |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 2 |
278700.0005; XERODERMA PIGMENTOSUM, TYPE A |
| Identified Mutation |
ARG207TER; In a Palestinian patient with severe symptoms of XP, Satokata et al. [Mutat. Res. 273: 193-202, (1992)] found homozygosity for a nucleotide transition altering the arg207 codon (CGA) to a nonsense codon (TGA). |
| Remarks |
De Sanctis-Cacchione; XP25RO; ATCC CRL 1261; 0 to 5% of normal post UV light induced unscheduled DNA synthesis; the donor subject is homozygous for a C-to-T substitution at nucleotide 619 (619C>T) which alters the Arg-207 codon (CGA) to a nonsense codon (TGA) in exon 5 of the XPA gene [Arg207Ter (R207X)]. |
| Wiese C, Rudolph JH, Jakob B, Fink D, Tobias F, Blattner C, Taucher-Scholz G, PCNA-dependent accumulation of CDKN1A into nuclear foci after ionizing irradiation DNA repair: 2011 |
| PubMed ID: 22456500 |
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| Langie SA, Knaapen AM, Brauers KJ, van Berlo D, van Schooten FJ, Godschalk RW, Development and validation of a modified comet assay to phenotypically assess nucleotide excision repair Mutagenesis21:153-8 2006 |
| PubMed ID: 16556641 |
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| Jakob B, Scholz M, Taucher-Scholz G, Characterization of CDKN1A (p21) binding to sites of heavy-ion-induced damage: colocalization with proteins involved in DNA repair International journal of radiation biology78:75-88 2002 |
| PubMed ID: 11779358 |
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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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| Abramova NA, Russell J, Botchan M, Li R, Interaction between replication protein A and p53 is disrupted after UV damage in a DNA repair-dependent manner. Proc Natl Acad Sci U S A94:7186-91 1997 |
| PubMed ID: 9207066 |
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| Tu Y, Bates S, Pfeifer GP, Sequence-specific and domain-specific DNA repair in xeroderma pigmentosum and Cockayne syndrome cells. J Biol Chem272:20747-55 1997 |
| PubMed ID: 9252397 |
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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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| Vermeulen W, Scott RJ, Rodgers S, Muller HJ, Cole J, Arlett CF, Kleijer WJ,
Bootsma D, Hoeijmakers JH, Weeda G, Clinical heterogeneity within xeroderma pigmentosum associated with mutations in
the DNA repair and transcription gene ERCC3. Am J Hum Genet54(2):191-200 1994 |
| PubMed ID: 8304337 |
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| Evans MK, Robbins JH, Ganges MB, Tarone RE, Nairn RS, Bohr VA, Gene-specific DNA repair in xeroderma pigmentosum complementation groups A, C, D, and F. Relation to cellular survival and clinical features. J Biol Chem268:4839-47 1993 |
| PubMed ID: 8444862 |
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| Zhen W, Evans MK, Haggerty CM, Bohr VA, Deficient gene specific repair of cisplatin-induced lesions in Xeroderma pigmentosum and Fanconi's anemia cell lines. Carcinogenesis14:919-24 1993 |
| PubMed ID: 8504485 |
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| Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y, Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A87:9908-12 1990 |
| PubMed ID: 1702221 |
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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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| Legerski RJ, Brown DB, Peterson CA, Robberson DL, Transient complementation of xeroderma pigmentosum cells by microinjection of poly(A)+ RNA. Proc Natl Acad Sci U S A81:5676-9 1984 |
| PubMed ID: 6207527 |
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| Thielmann HW, Fischer E, Dzarlieva RT, Komitowski D, Popanda O, Edler L, Spontaneous in vitro malignant transformation in a xeroderma pigmentosum fibroblast line. Int J Cancer31:687-700 1983 |
| PubMed ID: 6862680 |
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| Rainbow AJ, Howes M, A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne's syndrome. Mutat Res93:235-47 1982 |
| PubMed ID: 7062933 |
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| Squires S, Johnson RT, Collins AR, Initial rates of DNA incision in UV-irradiated human cells: differences between normal, xeroderma pigmentosum and tumour cells. Mutat Res95:389-404 1982 |
| PubMed ID: 7121492 |
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| Jaspers NG, Jansen-van de Kuilen G, Bootsma D, Complement analysis of xeroderma pigmentosum variants. Exp Cell Res136:81-90 1981 |
| PubMed ID: 7297615 |
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| Kaufmann WK, Cleaver JE, Mechanisms of inhibition of DNA replication by ultraviolet light in normal human and xeroderma pigmentosum fibroblasts. J Mol Biol149:171-87 1981 |
| PubMed ID: 7310880 |
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| Matsukuma S, Zelle B, Keijzer W, Berends F, Bootsma D, Different rates of restoration of the repair capacity in complementing xeroderma pigmentosum cells after fusion. Exp Cell Res134:103-12 1981 |
| PubMed ID: 7250211 |
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| Lehmann AR, Kirk-Bell S, Arlett CF, Harcourt SA, de Weerd-Kastelein EA, Keijzer W, Hall-Smith P, Repair of ultraviolet light damage in a variety of human fibroblast cell strains. Cancer Res37:904-10 1977 |
| PubMed ID: 837385 |
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| Kraemer KH, De Weerd-Kastelein EA, Robbins JH, Keijzer W, Barrett SF, Petinga RA, Bootsma D, Five complementation groups in xeroderma pigmentosum. Mutat Res33:327-40 1975 |
| PubMed ID: 1243579 |
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| Weerd-Kastelein EA de, Keijzer W, Bootsma D, A third complementation group in xeroderma pigmentosum. Mutat Res22:87-91 1974 |
| PubMed ID: 4842087 |
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| Kleijer WJ, Weerd-Kastelein EA de, Sluyter ML, Keijzer W, Wit J de, Bootsma D, UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes. Mutat Res20:417-28 1973 |
| PubMed ID: 4778857 |
| Passage Frozen |
14 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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