GM07752

GM07752 LCL from B-Lymphocyte

Description:

APPARENTLY HEALTHY INDIVIDUAL
HEMOCHROMATOSIS; HFE

Affected:

No

Sex:

Male

Age:

17 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Apparently Healthy Collection

Class

Disorders of the Nervous System

Alternate IDs

GM17278 [APPARENTLY HEALTHY INDIVIDUAL]

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

proband

Confirmation

Karyotypic analysis and Case history

Species

Homo sapiens

Common Name

Human

Remarks

See GM07753 Fibroblast; 46,XY; 12% of cells show random chromosome loss/gain; donor subject is heterozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis

Gene

HFE

Chromosomal Location

6p22.2

Allelic Variant 1

613609.0001; HEMOCHROMATOSIS

Identified Mutation

CYS282TYR; A missense mutation caused by a G-to-A transition at nucleotide position 845 results in a cysteine to tyrosine transition at codon position 282 [cys282tyr (C282Y)] in the HFE gene.

Phenotypic Data

Remarks

See GM07753 Fibroblast; 46,XY; 12% of cells show random chromosome loss/gain; donor subject is heterozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene

Publications

Bernacki SH, Beck JC, Muralidharan K, Schaefer FV, Shrimpton AE, Richie KL, Levin BC, Pont-Kingdon G, Stenzel TT., Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes. Clin Chem51(11):2156-9 2005

PubMed ID: 16244288

Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005

PubMed ID: 16203772