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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Family Member
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7
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Relation to Proband
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daughter
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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 |
6 |
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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 |
Cysts, polyps, and desmoid tumor; see GM03949 Lymphoid; ? hypersensitivity to MNNG produced loss of colony-forming ability; 46,XX; 6% of cells show chromosome aberrations; 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)] |
| Sommer CA1,2, Capilla A1,2, Molina-Estevez FJ1,2, Gianotti-Sommer A1,2, Skvir N2, Caballero I2, Chowdhury S1, Mostoslavsky G1,2., Modeling APC mutagenesis and familial adenomatous polyposis using human iPS cells PLoS One: 2018 |
| PubMed ID: 30024920 |
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| 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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| Kennedy AR, Radner BS, Nagasawa H, Protease inhibitors reduce the frequency of spontaneous chromosome abnormalities in cells from patients with Bloom syndrome. Proc Natl Acad Sci U S A81:1827-30 1984 |
| PubMed ID: 6584916 |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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