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 |
| Alternate IDs |
GM17078 [FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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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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| 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 |
Father was also affected; myriad of adenomatous colorectal polyps; rectal adenocarcinoma; see GM11477 Fibroblast; 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 |
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