Description:
FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
APC GENE
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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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PUERTO RICAN
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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 |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
APC |
| Chromosomal Location |
5q21-q22 |
| Allelic Variant 1 |
termination after 5 AA; ADENOMATOUS POLYPOSIS COLI |
| Identified Mutation |
3149delC |
| Remarks |
Puerto Rican; myriad of adenomatous colorectal polyps; rectal adenocarcinoma; see GM11410 Lymphoid; donor subject has one allele which has a 1 bp deletion at nucleotide 3149 in exon 15 of the APC gene (3149delC) resulting in the truncation of the APC gene product |
| Aquino A, Garcia C, Dosluoglu H, Frelick R, Johnstone EA, Lebowitz HA, Garren LR, Witkin GB, Borgaonkar DS, Finocchiaro M, et al, Familial adenomatous polyposis in Delaware. Del Med J65(10):627-44 1993 |
| PubMed ID: 8253253 |
| Passage Frozen |
5 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
MEM (Eagle) Alpha Modification with nucleosides 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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