NA02994
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 |
| Alternate IDs |
GM17378 [XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA] |
| Quantity |
10 µg |
| 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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Ethnicity
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EGYPTIAN
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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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| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 1 |
; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
| Identified Mutation |
c.507-2A>G (IVS3-2A>G) |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 2 |
; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
| Identified Mutation |
c.507-2A>G (IVS3-2A>G) |
| Remarks |
Egyptian; XP5CA; onset of skin symptoms at one year of age; photophobia; microcephaly and mental deficiency probably from birth; no skin or tongue neoplasia |
| 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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| 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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| Satokata I, Tanaka K, Miura N, Narita M, Mimaki T, Satoh Y, Kondo S, Okada Y, Three nonsense mutations responsible for group A xeroderma pigmentosum. Mutat Res273:193-202 1992 |
| PubMed ID: 1372102 |
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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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| Blum M, Baumann I, Lohrer H, Rahmsdorf HJ, Herrlich P, A promising genomic transfectant into Xeroderma pigmentosum group A with highly amplified mouse DNA and intermediate UV resistance turns revertant. Biochem Biophys Res Commun160:647-55 1989 |
| PubMed ID: 2719687 |
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| Gomer CJ, Rucker N, Murphree AL, Differential cell photosensitivity following porphyrin photodynamic therapy. Cancer Res48:4539-42 1988 |
| PubMed ID: 2969280 |
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| Wood CM, Timme TL, Hurt MM, Brinkley BR, Ledbetter DH, Moses RE, Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid. Exp Cell Res169:543-53 1987 |
| PubMed ID: 3030788 |
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| Hurt MM, Moses RE, Conversion of replicative intermediates in human DNA-repair defective cells. Exp Cell Res163:396-404 1986 |
| PubMed ID: 3956584 |
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| Cleaver JE, DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines. Mech Ageing Dev27:189-96 1984 |
| PubMed ID: 6492896 |
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| Boorstein R, Campisi J, Pardee AB, The study of DNA-repair defects using [125I]iododeoxycytidine incorporation as an assay for the growth of herpes simplex virus. Mutat Res112:85-95 1983 |
| PubMed ID: 6300669 |
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| Campisi J, Hafner J, Boorstein R, Pardee AB, Hereditary orotic aciduria, Lesch-Nyhan syndrome, and xeroderma pigmentosum probed by herpes simplex virus: 125I-iododeoxycytidine incorporation as an assay for viral growth. J Cell Physiol114:21-8 1983 |
| PubMed ID: 6826658 |
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| Hurt MM, Beaudet AL, Moses RE, Stable low molecular weight DNA in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A80:6987-91 1983 |
| PubMed ID: 6196782 |
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| Kuhnlein U, Tsang SS, Lokken O, Tong S, Twa D, Cell lines from xeroderma pigmentosum complementation group A lack a single-stranded-DNA-binding activity. Biosci Rep3:667-74 1983 |
| PubMed ID: 6684957 |
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| Cleaver JE, Rapid complementation method for classifying excision repair-defective xeroderma pigmentosum cell strains. Somatic Cell Genet8:801-10 1982 |
| PubMed ID: 7163956 |
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| Cleaver JE, Zelle B, Hashem N, El-Hefnawi MH, German J, Xeroderma pigmentosum patients from Egypt: II. Preliminary correlations of epidemiology, clinical symptoms and molecular biology. J Invest Dermatol77:96-101 1981 |
| PubMed ID: 7252263 |
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| Hashem N, Bootsma D, Keijzer W, Greene A, Coriell L, Thomas G, Cleaver JE, Clinical characteristics, DNA repair, and complementation groups in xeroderma pigmentosum patients from Egypt. Cancer Res40:13-8 1980 |
| PubMed ID: 7349892 |
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