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
NA11300 DNA from LCL

Description:

RETT SYNDROME; RTT
METHYL-CPG-BINDING PROTEIN 2; MECP2

Affected:

Yes

Sex:

Female

Age:

No Data

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Nervous System
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
Family Member 2
Relation to Proband half-sister
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; donor subject carries a missense mutation, 316C>T, in the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the change of a conserved amino acid [ARG106TRP (R106W)] in the methyl-binding domain. This mutation was alternately listed as 390C>T [Amir et al. Nature Genet 23:185, 1999]

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 MECP2
Chromosomal Location Xq28
Allelic Variant 1 300005.0008; RETT SYNDROME
Identified Mutation ARG106TRP; In 2 affected half sisters of a family with Rett syndrome (312750), Amir et al. [Nature Genet. 23: 185-188 (1999)] identified a C-to-T transition at nucleotide 390 of the MECP2 gene, resulting in an ARG106-to-TRP substitution.

Phenotypic Data

back to top
Remarks Clinically affected; donor subject carries a missense mutation, 316C>T, in the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the change of a conserved amino acid [ARG106TRP (R106W)] in the methyl-binding domain. This mutation was alternately listed as 390C>T [Amir et al. Nature Genet 23:185, 1999]

Publications

back to top
Amir,R., Van den Veyver, I. B., Wan, M., Tran, C., Francke, U. and Zoghbi, H. Y., Rett syndrome is caused by nutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nat Genet23:185-188 1999
PubMed ID: 10508514
 
Ellison, K. A., C. P. Fill, J. Terwilliger, L. J. Degennaro, A. Martin-Gallardo, M. Anvret, A. K. Percy, J. Ott, and H. Y. Zohgbi, Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis Am J Hum Genet50:278-287 1992
PubMed ID: 1734712

External Links

back to top
dbSNP dbSNP ID: 11531
Gene Cards MECP2
Gene Ontology GO:0000122 negative regulation of transcription from Pol II promoter
GO:0003677 DNA binding
GO:0003714 transcription corepressor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-dependent
NCBI Gene Gene ID:4204
NCBI GTR 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
312750 RETT SYNDROME; RTT
OMIM 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
312750 RETT SYNDROME; RTT
Omim Description AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE
  RETT SYNDROME; RTT
  RTS
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • GM11300 - B-Lymphocyte
Same Family
  • 1886
Miscellaneous
  • 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