NA14646

NA14646 DNA from LCL

Description:

HEMOCHROMATOSIS; HFE
HOMEOSTATIC IRON REGULATOR; HFE

Affected:

Yes

Sex:

Male

Age:

46 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Metal Metabolism

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Race

White

Family Member

Relation to Proband

father

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Asymptomatic; serum ferritin 2090 ng/ml; serum iron 201 mcg/dl; transferrin saturation 86%; liver biopsy revealed no fibrosis; 3+ iron stain; affected son is GM14640; homozygous 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

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

613609.0001; 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

Publications

Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023

PubMed ID: 38524212