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NA14690 DNA from LCL

Description:

HEMOCHROMATOSIS; HFE

Affected:

No

Sex:

Female

Age:

56 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Metal Metabolism
Alternate IDs GM18071 [HEMOCHROMATOSIS; HFE]
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 2
Relation to Proband mother
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically normal; mother of an affected child, GM14689; one allele carries the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene; second allele is negative for the C282Y and H63D (His63Asp) mutations

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 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

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Remarks Clinically normal; mother of an affected child, GM14689; one allele carries the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene; second allele is negative for the C282Y and H63D (His63Asp) mutations

Publications

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Ouchi R, Togo S, Kimura M, Shinozawa T, Koido M, Koike H, Thompson W, Karns RA, Mayhew CN, McGrath PS, McCauley HA, Zhang RR, Lewis K, Hakozaki S, Ferguson A, Saiki N, Yoneyama Y, Takeuchi I, Mabuchi Y, Akazawa C, Yoshikawa HY, Wells JM, Takebe T, Modeling Steatohepatitis in Humans with Pluripotent Stem Cell-Derived Organoids Cell metabolism30:374-384.e6 2018
PubMed ID: 31155493
 
Medintz I,Wong WW,Sensabaugh G,Mathies R, High speed single nucleotide polymorphism typing of a hereditary haemochromatosis mutation with capillary array electrophoresis microplates [In Process Citation] Electrophoresis21:2352-8 2000
PubMed ID: 10939445

External Links

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dbSNP dbSNP ID: 12168
Gene Ontology GO:0005737 cytoplasm
GO:0005887 integral to plasma membrane
GO:0006461 protein complex assembly
GO:0006810 transport
GO:0006826 iron ion transport
GO:0006879 iron ion homeostasis
GO:0006898 receptor mediated endocytosis
GO:0006955 immune response
GO:0016020 membrane
GO:0019883 antigen presentation, endogenous antigen
GO:0019885 antigen processing, endogenous antigen via MHC class I
GO:0030106 MHC class I receptor activity
NCBI Gene Gene ID:3077
NCBI GTR 235200 HEMOCHROMATOSIS, TYPE 1; HFE1
OMIM 235200 HEMOCHROMATOSIS, TYPE 1; HFE1
Omim Description HEMOCHROMATOSIS, HEREDITARY; HH
  HEMOCHROMATOSIS; HFE
  HLAH
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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