Description:
FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Heritable Cancer Syndromes and other Cancers |
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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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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 |
4.46 |
| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
Affected father, grandmother, greatgrandfather, and greatgreatgrandmother; numerous sm polyps present in the cecum, rectum, and sigmoid; culture is derived from a skin (arm) biopsy; 46,XX,22p+; slight hypersensitivity to UV induced cell killing |
| Maher VM, Domoradzki J, Bhattacharyya NP, Tsujimura T, Corner RC, McCormick JJ, Alkylation damage, DNA repair and mutagenesis in human cells. Mutat Res233:235-45 1990 |
| PubMed ID: 2233805 |
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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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| Grosovsky AJ, Little JB, Mutagenesis and lethality following S phase irradiation of xeroderma pigmentosum and normal human diploid fibroblasts with ultraviolet light. Carcinogenesis4:1389-93 1983 |
| PubMed ID: 6640842 |
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| Antecol MH, Mukherjee BB, Effects of 12-O-tetradecanoylphorbol-13-acetate on fibroblasts from individuals genetically predisposed to cancer. Cancer Res42:3870-9 1982 |
| PubMed ID: 6213297 |
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| Barfknecht TR, Little JB, Abnormal sensitivity of skin fibroblasts from familial polyposis patients to DNA alkylating agents. Cancer Res42:1249-54 1982 |
| PubMed ID: 6800649 |
| Cumulative PDL at Freeze |
10.3 |
| Passage Frozen |
4 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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