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GM07518 LCL from B-Lymphocyte

Description:

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Affected:

No

Sex:

Female

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Heritable Cancer Syndromes and other Cancers
Alternate IDs GM18026 [FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 14
Relation to Proband in-law
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically normal spouse of GM07511B; mother of GM07509, 07510, 07512, 07515, 07516, & 07517

Characterizations

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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 MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 

Phenotypic Data

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Remarks Clinically normal spouse of GM07511B; mother of GM07509, 07510, 07512, 07515, 07516, & 07517

Publications

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Gardner EJ, Rogers SW, Woodward S, Numerical and structural chromosome aberrations in cultured lymphocytes and cutaneous fibroblasts of patients with multiple adenomas of the colorectum. Cancer49:1413-9 1982
PubMed ID: 7059954

External Links

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dbSNP dbSNP ID: 11013
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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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
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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