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
NA06151 DNA from Fibroblast

Description:

MACHADO-JOSEPH DISEASE; MJD
ATAXIN 3; ATXN3

Affected:

Yes

Sex:

Male

Age:

38 YR (At Sampling)

  • 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
Class Disorders with Trinucleotide Expansions
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Ethnicity PORTUGUESE
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Portuguese; affected father and two sibs; SCA Type III (SCA3): ataxia, nystagmus, and dysarthria; allele 1 has 24 CAG repeats in the ATXN3 (MJD) gene; allele 2 has 74 CAG repeats

Characterizations

back to top
PDL at Freeze 4.17
Passage Frozen 8
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Gene ATXN3
Chromosomal Location 14q24.3-q31
Allelic Variant 1 607047.0001; MACHADO-JOSEPH DISEASE
Identified Mutation (CAG)n EXPANSION; Machado-Joseph disease and spinocerebellar ataxia-3 are caused by expansion of a trinucleotide repeat (CAG)n in the MJD gene. In normal individuals, the gene contains between 13 and 36 repeats, whereas most patients with clinically diagnosed MJD and all of the affected members of a family with clinical and pathological MJD show expansion of the repeat number in the range of 68 to 79 copies.

Phenotypic Data

back to top
Remarks Portuguese; affected father and two sibs; SCA Type III (SCA3): ataxia, nystagmus, and dysarthria; allele 1 has 24 CAG repeats in the ATXN3 (MJD) gene; allele 2 has 74 CAG repeats

Publications

back to top
Zhang N, Bewick B, Schultz J, Tiwari A, Krencik R, Zhang A, Adachi K, Xia G, Yun K, Sarkar P, Ashizawa T, DNAzyme Cleavage of CAG Repeat RNA in Polyglutamine Diseases Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics: 2021
PubMed ID: 34160773
 
Laffita-Mesa JM, Nennesmo I, Paucar M, Svenningsson P, A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72-ALS Movement disorders : official journal of the Movement Disorder Society: 2020
PubMed ID: 33058338
 
Lian M, Zhao M, Phang GP, Soong YT, Yoon CS, Lee CG, Law HY, Chong SS, Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis The Journal of molecular diagnostics : JMD23:565-576 2020
PubMed ID: 33618058
 
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ, Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS American journal of human genetics105:151-165 2019
PubMed ID: 31230722
 
Chen ZS1,2, Li L1,2, Peng S1,2, Chen FM3, Zhang Q1,2, An Y1,2, Lin X2, Li W2, Koon AC1,2, Chan TF2,3,4,5, Lau KF2,3,4, Ngo JCK2,3, Wong WT3, Kwan KM3,6,7, Chan HYE8,2,3,4,5., Planar cell polarity gene Fuz triggers apoptosis in neurodegenerative disease models EMBO Reports105:151-165 2018
PubMed ID: 30026307
 
Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M, Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data American journal of human genetics105:151-165 2017
PubMed ID: 30503517
 
Evers MM, Tran HD, Zalachoras I, Pepers BA, Meijer OC, den Dunnen JT, van Ommen GJ, Aartsma-Rus A, van Roon-Mom WM, Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon Neurobiology of disease105:151-165 2013
PubMed ID: 23659897
 
Evers MM, Pepers BA, van Deutekom JC, Mulders SA, den Dunnen JT, Aartsma-Rus A, van Ommen GJ, van Roon-Mom WM, Targeting several CAG expansion diseases by a single antisense oligonucleotide PloS one6:e24308 2011
PubMed ID: 21909428

External Links

back to top
dbSNP dbSNP ID: 10850
Gene Cards ATXN3
MJD
Gene Ontology GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006289 nucleotide-excision repair
GO:0006355 regulation of transcription, DNA-dependent
GO:0007268 synaptic transmission
GO:0007399 neurogenesis
NCBI Gene Gene ID:4287
NCBI GTR 109150 MACHADO-JOSEPH DISEASE; MJD
607047 ATAXIN 3; ATXN3
OMIM 109150 MACHADO-JOSEPH DISEASE; MJD
607047 ATAXIN 3; ATXN3
Omim Description AZOREAN NEUROLOGIC DISEASE
  MACHADO-JOSEPH DISEASE; MJD
  NIGROSPINODENTATAL DEGENERATIONATAXIN 3, INCLUDED; ATX3, INCLUDED
  SPINOCEREBELLAR ATAXIA 3; SCA3
  SPINOCEREBELLAR ATROPHY III
  SPINOPONTINE ATROPHY
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
  • GM06151 - Fibroblast
Same Family
  • 936
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