Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
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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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Asiatic Indian
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Ethnicity
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ASIAN
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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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| Passage Frozen |
3 |
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| REPAIR OF UV- OR X RAY-IRRADIATED DNA OR ALKYLATED DNA |
Yamaizumi et al (Mutation Res 217:135-140,1989) described the results of microinjecting a T4 endonuclease into the cytoplasm of xeroderma pigmentosum and normal cells. Microinjection of the enzyme into XP cells of complementation groups A, B, C, D, F, G, or H restored the normal level of unscheduled DNA synthesis after UV irradiation exhibiting the same dose dependency in each group. |
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| Remarks |
XP1AA; 10-20% of normal UV induced unscheduled DNA synthesis |
| 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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| Okuno Y, Tateishi S, Yamaizumi M, Complementation of xeroderma pigmentosum cells by microinjection of mRNA fractionated under denaturing conditions: an estimation of sizes of XP-E and XP-G mRNA. Mutat Res314:11-9 1994 |
| PubMed ID: 7504187 |
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| Shiomi T, Harada Y, Saito T, Shiomi N, Okuno Y, Yamaizumi M, An ERCC5 gene with homology to yeast RAD2 is involved in group G xeroderma pigmentosum. Mutat Res314:167-75 1994 |
| PubMed ID: 7510366 |
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| Yanagisawa J, Seki M, Ui M, Enomoto T, Alteration of a DNA-dependent ATPase activity in xeroderma pigmentosum complementation group C cells. J Biol Chem267:3585-8 1992 |
| PubMed ID: 1310977 |
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| Yamaizumi M, Inaoka T, Uchida T, Ohtsuka E, Microinjection of T4 endonuclease V produced by a synthetic denV gene stimulates unscheduled DNA synthesis in both xeroderma pigmentosum and normal cells. Mutat Res217:135-40 1989 |
| PubMed ID: 2918866 |
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| Yamaizumi M, Sugano T, Asahina H, Okada Y, Uchida T, Microinjection of partially purified protein factor restores DNA damage specifically in group A of xeroderma pigmentosum cells. Proc Natl Acad Sci U S A83:1476-9 1986 |
| PubMed ID: 3456596 |
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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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| Cleaver JE, Inactivation of ultraviolet repair in normal and xeroderma pigmentosum cells by methyl methanesulfonate. Cancer Res42:860-3 1982 |
| PubMed ID: 7059984 |
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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 |
| Passage Frozen |
3 |
| 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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