GM03315
LCL from B-Lymphocyte
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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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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LCL from B-Lymphocyte
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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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ISCN
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46,XX
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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 Chromosome Analysis |
| |
| 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 |
See GM03314 Fibro; adenocarcinoma of colon; 5 affected children, 3 affected sibs, and 2 affected cousins; 46,XX; 16% of cells show random chromosome loss; 20% polyploid; 4% of cells show chromosome breakage; 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)] |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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