GM14691

GM14691 LCL from B-Lymphocyte

Description:

HEMOCHROMATOSIS; HFE

Affected:

No

Sex:

Male

Age:

58 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Metal Metabolism

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

father

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically normal; father of an affected child, GM14689; treated for Hodgkin's disease; compound heterozygote for Cys282Tyr and His63Asp mutations (C282Y/ H63D) of the HFE (HLA-H) gene; no iron studies performed

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

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.

Gene

HFE

Chromosomal Location

6p22.2

Allelic Variant 2

613609.0002; HEMOCHROMATOSIS

Identified Mutation

HIS63ASP; A mutation caused by a C-to-G transversion in exon 2 results in a histidine to aspartic acid substitution at codon position 63 [his63asp (H63D)] in the HFE gene.

Phenotypic Data

Remarks

Publications

Hong F, Ma D, Wu K, Mina LA, Luiten RC, Liu Y, Yan H, Green AA, Precise and Programmable Detection of Mutations Using Ultraspecific Riboregulators Cell180:1018-1032.e16 2019

PubMed ID: 32109416