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
Hereditary Cancers |
| 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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Ethnicity
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ENGLISH
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Family Member
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2
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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 |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Gene |
APC |
| Chromosomal Location |
5q21-q22 |
| Allelic Variant 1 |
611731.0014; ADENOMATOUS POLYPOSIS COLI |
| Identified Mutation |
GLN541TER; In a Dutch family with APC, Fodde et al. [Genomics 13: 1162-1168 (1992)] identified a CAG-to-TAG change in codon 541 converting glutamine to a stop codon. Hamilton et al. [New Eng. J. Med. 332: 839-847 (1995)] found the same mutation in a family with Turcot syndrome with medulloblastoma (their family 7). |
| Remarks |
English; adenocarcinoma of colon; see GM03315A Lymphoid; hypersensitivity to MNNG produced loss of colony-forming ability; 46,XX/46,XX,t(5;15)(5pter> 5q22::15q26>15qter;15pter>15q26::5q22> 5qter); 40%/60%; 14% are polyploid at P5; donor subject has a C>T change at nucleotide 1621 in exon 12 of the APC gene (1621C>T) resulting in the conversion of a glutamine at codon 541 to a stop codon [Gln541Ter (Q541X)] |
| 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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| Miyakoshi J, Dobler KD, Allalunis-Turner J, McKean JD, Petruk K, Allen PB, Aronyk KN, Weir B, Huyser-Wierenga D, Fulton D, et al, Absence of IFNA and IFNB genes from human malignant glioma cell lines and lack of correlation with cellular sensitivity to interferons. Cancer Res50:278-83 1990 |
| PubMed ID: 2295067 |
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| Elliott MS, Katze JR, Inhibition of queuine uptake in diploid human fibroblasts by phorbol-12,13-didecanoate. Requirement for a factor derived from early passage cells. J Biol Chem261:13019-13025 1986 |
| PubMed ID: 3093476 |
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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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| Nagasawa H, Little JB, Suppression of cytotoxic effect of mitomycin-C by superoxide dismutase in Fanconi's anemia and dyskeratosis congenita fibroblasts. Carcinogenesis4:795-9 1983 |
| PubMed ID: 6409437 |
| Passage Frozen |
7 |
| Split Ratio |
1:3 |
| 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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