GM03953

GM03953 LCL from B-Lymphocyte

Description:

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Affected:

No Data

Sex:

Female

Age:

20 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Heritable Cancer Syndromes and other Cancers

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

Relation to Proband

niece

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

At risk; unaffected parents; father is GM03941; see GM03952 Fibroblast

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

At risk; unaffected parents; father is GM03941; see GM03952 Fibroblast

External Links

dbSNP

dbSNP ID: 21217

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

Split Ratio

1:3

Temperature

37 C

Percent CO2

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

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD