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GM03223 Fibroblast

Description:

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Affected:

Yes

Sex:

Male

Age:

25 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Hereditary Cancers
Class Heritable Cancer Syndromes and other Cancers
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 1
Relation to Proband son
Confirmation Clinical summary/Case history
ISCN 46,XY,t(1;10)(1pter>1q32::10p15> 10pter;10qter>10p15::1q32>1qter)[4]/46,XY[46]
Species Homo sapiens
Common Name Human
Remarks See GM03224 Lymphoid; normal sensitivity to MNNG produced loss of colony-forming ability; 46,XY; 8% of fibroblasts are 46,XY,t(1;10)(q32;p15); unbalanced; 7% are polyploid; 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)]

Characterizations

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Passage Frozen 2
 
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).

Phenotypic Data

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Remarks See GM03224 Lymphoid; normal sensitivity to MNNG produced loss of colony-forming ability; 46,XY; 8% of fibroblasts are 46,XY,t(1;10)(q32;p15); unbalanced; 7% are polyploid; 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)]

Publications

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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

External Links

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dbSNP dbSNP ID: 22221
Gene Ontology GO:0006461 protein complex assembly
GO:0007155 cell adhesion
GO:0007165 signal transduction
GO:0008013 beta-catenin binding
GO:0008017 microtubule binding
GO:0016055 Wnt receptor signaling pathway
GO:0045786 negative regulation of cell cycle
NCBI Gene Gene ID:324
NCBI GTR 175100 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
OMIM 175100 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
Omim Description 'DELETED IN POLYPOSIS' 2.5, INCLUDED; DP2.5, INCLUDED
  ADENOMATOUS POLYPOSIS OF THE COLON; APC
  FAMILIAL ADENOMATOUS POLYPOSIS; FAPGARDNER SYNDROME, INCLUDED; GS, INCLUDED
  FAMILIAL POLYPOSIS OF THE COLON; FPC
  POLYPOSIS, ADENOMATOUS INTESTINAL

Culture Protocols

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Passage Frozen 2
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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