Coriell Institute for Medical Research
Coriell Institute of Medical Research
  • Request a Quote
  • Donate
  • Login
  • View Cart
Sample Catalog | Custom Services | Core Facilities | Genomic Data Search
  • Biobank
    • NIGMS
    • NINDS
    • NIA
    • NHGRI
    • NEI
    • Allen Cell Collection
    • Rett Syndrome iPSC Collection
    • Autism Research Resource
    • HD Community Biorepository
    • CDC Cell and DNA
    • J. Craig Venter Institute
    • Orphan Disease Center Collection
    • All Biobanks
  • Research
    • Overview
    • Meet Our Scientists
      • Our Faculty
      • Our Scientific Staff
    • Camden Cancer Research Center
    • Epigenetic Therapies SPORE
    • Core Facilities
    • Epigenomics
    • Camden Opioid Research Initiative (CORI)
    • The Issa & Jelinek Lab
    • The Jian Huang Lab
    • The Luke Chen Lab
      • The Lab
      • The Team
      • Publications
    • The Scheinfeldt Lab
    • The Shumei Song Lab
    • The Nora Engel Lab
      • The Lab
      • The Team
      • Publications
    • Publications
  • Services
    • Overview
    • Biobanking Services
      • Core Services
      • Project Management
      • Research Support Services
      • Sample Cataloging
      • Sample Collection Kits
      • Sample Data Management
      • Sample Distribution
      • Sample Management
      • Sample Procurement
      • Sample Storage
    • Bioinformatics and Biostatistics Services
    • Cellular and Molecular Services
      • Biomarker Research Solutions
      • Cell Culture
      • Nucleic Acid Isolation and Quality Control
    • Clinical Trial Support
      • Overview
      • Sample Collection
      • Data Management
      • Sample Processing and QC
      • Storage and Distribution
      • Biomarker Services
      • Data Analaysis
    • Core Facilties
      • Overview
      • Animal and Xenograft
      • Bioinformatics and Biostatistics
      • Cell Imaging
      • CRISPR Gene Engineering
      • Flow Cytometry and Cell Sorting
      • Genomics and Epigenomics
      • iPSC - Induced Pluripotent Stem Cells
      • Organoids
    • Coriell Marketplace
    • Genomic, Epigenomic and Multiomics Services
    • Stem Cells and iPSC Services
      • Core Services
      • Reprogramming
      • Characterization and Quality Control
      • Differentiated Cell Lines
      • iPSC-Derived Organoids
      • iPSC Expansion
      • iPSC Gene Editing
  • Ordering
    • Stem Cells
    • Cell Lines
    • DNA and RNA
    • Featured Products
      • FFPE
      • HMW DNA
    • Genomic Data Search
    • Search by Catalog ID
    • Help
      • Create Account
      • Order Online
      • Ordering FAQ
      • FAQs/Culture Instructions
      • Reference Materials
        • Biobanks
        • NIGMS Repository
        • NHGRI Repository
        • NINDS Repository
        • NIA Repository
        • NIST
        • GeT-RM
      • Secondary Distribution Policies
      • MTA Assurance Form
      • Shipment Policy
      • Contact Customer Service
  • About Us
    • Our History
    • Meet Our Team
    • Meet Our Board
    • Education
      • Science Fair
      • Summer Experience
      • Outreach
      • Research Program Internship
    • Press Room
      • Press Releases
      • Coriell Blog
      • Annual Report
    • Careers
      • Working at Coriell
    • Giving
      • Donate
      • Giving FAQ
    • Contact Us
    • Legal Notice
  • Login View Cart
search submit
GM14650 LCL from B-Lymphocyte

Description:

HEMOCHROMATOSIS; HFE
FACTOR V DEFICIENCY
HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS

Affected:

No

Sex:

Female

Age:

21 YR (At Sampling)

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

Overview

back to top
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 4
Relation to Proband sister
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically normal; affected brother is GM14640 and affected father is GM14646; serum ferritin 101 ng/ml; serum iron 131 mcg/dl; compound heterozygote for the Cys282Tyr and His63Asp mutations (C282Y/ H63D) of the HFE (HLA-H) gene; heterozygous for a guanine-to-adenine substitution at nucleotide 1691 of the Factor V (F5) gene resulting in a replacement of arg506 (CGA) by gln (CAA) [ARG506GLN (R506Q) or G1691A].

Characterizations

back to top
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 F5
Chromosomal Location 1q23
Allelic Variant 1 227400.0001; THROMBOPHILIA DUE TO DEFICIENCY OF COFACTOR FOR ACTIVATED PROTEIN
Identified Mutation 20009404T>C; Bertina et al. [Nature 369: 64-67 (1994)] identified a mutation in the F5 gene as the basis of deficiency of the cofactor of activated protein C in a family with APC resistance and proneness to thrombosis. In 2 patients classified as homozygous for the deficiency of the cofactor, they found homozygosity for a guanine-to-adenine substitution at nucleotide 1691. This mutation predicted the replacement of arg506 (CGA) by gln (CAA). They referred to the mutation as FV Q506 or FV Leiden. (This mutation is also known as R506Q, using the single letter symbols for the amino acid change. It is also known as G1691A, or, to avoid confusion of the single letter symbol for nucleotides with similar symbols for amino acids, 1691G-A.)
 
Gene HFE
Chromosomal Location 6p22.2
Allelic Variant 2 613609.0002; HEMOCHROMATOSIS
Identified Mutation c.187C>G (p.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

back to top
Remarks Clinically normal; affected brother is GM14640 and affected father is GM14646; serum ferritin 101 ng/ml; serum iron 131 mcg/dl; compound heterozygote for the Cys282Tyr and His63Asp mutations (C282Y/ H63D) of the HFE (HLA-H) gene; heterozygous for a guanine-to-adenine substitution at nucleotide 1691 of the Factor V (F5) gene resulting in a replacement of arg506 (CGA) by gln (CAA) [ARG506GLN (R506Q) or G1691A].

Publications

back to top
Bao YP, Huber M, Wei TF, Marla SS, Storhoff JJ, Müller UR, SNP identification in unamplified human genomic DNA with gold nanoparticle probes Nucleic acids research33:e15 2005
PubMed ID: 15659576

External Links

back to top
dbSNP dbSNP ID: 12148
Gene Ontology GO:0005507 copper ion binding
GO:0005576 extracellular
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:0007155 cell adhesion
GO:0007596 blood coagulation
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
GEO GEO Accession No: GSM282166
GEO Accession No: GSM282203
NCBI Gene Gene ID:2153
Gene ID:3077
NCBI GTR 227400 FACTOR V DEFICIENCY
235200 HEMOCHROMATOSIS, TYPE 1; HFE1
OMIM 227400 FACTOR V DEFICIENCY
235200 HEMOCHROMATOSIS, TYPE 1; HFE1
Omim Description HEMOCHROMATOSIS, HEREDITARY; HH
  HEMOCHROMATOSIS; HFE
  HLAH

Culture Protocols

back to top
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
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
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • NA14650 - DNA
Same Family
  • 1780
DNA Panels
  • MUTHEMO
Miscellaneous
  • DNA on Demand
  • Custom Services

Our mission is to prevent and cure disease through biomedical research.

CONTACT US

CUSTOMER SERVICE
customerservice@coriell.org (800) 752-3805 • (856) 757-4848
Subscribe to our newsletter here

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

Ⓒ 2025 Coriell Institute. All rights reserved.

  • Facebook
  • Linkedin
  • Youtube