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
GM06160 LCL from B-Lymphocyte

Description:

APPARENTLY HEALTHY INDIVIDUAL
HEMOCHROMATOSIS; HFE
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS

Affected:

No

Sex:

Male

Age:

25 YR (At Sampling)

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Apparently Healthy Collection
Class Disorders of the Nervous System
Alternate IDs GM17264 [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 1
Relation to Proband proband
Confirmation Karyotypic analysis and Case history
ISCN 46,XY
Species Homo sapiens
Common Name Human
Remarks 46,XY; 14% of cells show random chromosome loss/gain; donor subject is heterozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene and is also heterozygous for a C-to-T substitution at nucleotide 677 that converts an alanine to a valine residue in the methylenetetrahydrofolate reductase (MTHFR) gene (677C-T)

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 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.
 
Gene MTHFR
Chromosomal Location 1p36.3
Allelic Variant 1 607093.0003; MTHFR THERMOLABILE POLYMORPHISM
Identified Mutation 677C>T; Frosst et al. [Nature Genet. 10: 111-113 (1995)] identified a C-to-T substitution at nucleotide 677 that converted an alanine to a valine residue. The alteration created a HinfI site that was used to screen 114 unselected French-Canadian chromosomes; the allele frequency of the substitution was 0.38. The mutation in the heterozygous or homozygous state correlated with reduced enzyme activity and increased thermolability in lymphocyte extracts; in vitro expression of the mutagenized cDNA containing the mutation confirmed its effect on thermolability of MTHFR. Individuals homozygous for the mutation had significantly elevated plasma homocysteine levels. Thus, the 677C-T mutation may represent an important genetic risk factor in vascular disease.

Phenotypic Data

back to top
Remarks 46,XY; 14% of cells show random chromosome loss/gain; donor subject is heterozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene and is also heterozygous for a C-to-T substitution at nucleotide 677 that converts an alanine to a valine residue in the methylenetetrahydrofolate reductase (MTHFR) gene (677C-T)

Publications

back to top
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
 
Ramirez-Montealegre D, Pearce DA, Defective lysosomal arginine transport in juvenile Batten disease Human molecular genetics14:3759-73 2005
PubMed ID: 16251196
 
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

External Links

back to top
dbSNP dbSNP ID: 10852
Gene Cards MTHFR
Gene Ontology GO:0004489 methylenetetrahydrofolate reductase (NADPH) activity
GO:0005737 cytoplasm
GO:0005887 integral to plasma membrane
GO:0006461 protein complex assembly
GO:0006520 amino acid metabolism
GO:0006555 methionine metabolism
GO:0006810 transport
GO:0006826 iron ion transport
GO:0006879 iron ion homeostasis
GO:0006898 receptor mediated endocytosis
GO:0006955 immune response
GO:0008015 circulation
GO:0016020 membrane
GO:0016491 oxidoreductase activity
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
Gene ID:4524
NCBI GTR 235200 HEMOCHROMATOSIS, TYPE 1; HFE1
607093 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
OMIM 235200 HEMOCHROMATOSIS, TYPE 1; HFE1
607093 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

Images

back to top
View karyotype 
karyotype 

Culture Protocols

back to top
Split Ratio 1:3
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
Commercial/For-profit:
$373.00USD
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
  • NA06160 - DNA
Same Family
  • 1030
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