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
GM02552 Fibroblast

Description:

MUCOPOLYSACCHARIDOSIS TYPE IIIB
N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU

Affected:

Yes

Sex:

Female

Age:

7 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
Lysosomal Storage Diseases
Class Disorders of Carbohydrate Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Deficient N-acetyl-alpha-glucosaminidase; increased urinary heparan sulfate; compound heterozygote; one allele carries a C>T transition in nucleotide 889 (889C>T) in the NAGLU gene, resulting in a stop codon at codon 297 [Arg297ter(R297X)]; the second allele has a mutation resulting in a substitution of histidine for arginine at codon 643 [Arg643His(R643H)]

Characterizations

back to top
Passage Frozen 7
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
alpha-N-acetylglucosaminidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.50
 
Gene NAGLU
Chromosomal Location 17q21
Allelic Variant 1 609701.0003; MUCOPOLYSACCHARIDOSIS TYPE IIIB
Identified Mutation ARG297TER; In a cell line from a patient with Sanfilippo syndrome type B, GM02552, Zhao et al. [Proc. Natl. Acad. Sci. USA 93:6101-6105 (1996)] identified compound heterozygosity; one of the alleles had a C to T transition at nucleotide 889, resulting in a stop in lieu of arginine at codon 297 (R297X).
 
Gene NAGLU
Chromosomal Location 17q21
Allelic Variant 2 609701.0004; MUCOPOLYSACCHARIDOSIS TYPE IIIB
Identified Mutation ARG643HIS; In a cell line from a patient with Sanfilippo syndrome type B, GM02552, Zhao et al. [Proc. Natl. Acad. Sci. USA 93:6101-6105 (1996)] identified compound heterozygosity; one of the alleles had a G to A transition and a substitution of histidine for arginine at codon 643 (R643H).

Phenotypic Data

back to top
Remarks Deficient N-acetyl-alpha-glucosaminidase; increased urinary heparan sulfate; compound heterozygote; one allele carries a C>T transition in nucleotide 889 (889C>T) in the NAGLU gene, resulting in a stop codon at codon 297 [Arg297ter(R297X)]; the second allele has a mutation resulting in a substitution of histidine for arginine at codon 643 [Arg643His(R643H)]

Publications

back to top
Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013
PubMed ID: 23983233
 
Xu M1, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W., δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem287(47):39349-60 2012
PubMed ID: 23035117
 
Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF, The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A93:6101-5 1996
PubMed ID: 8650226
 
Di Natale P, Murino P, Pontarelli G, Salvatore D, Andria G, Sanfilippo B syndrome (MPS III B): altered residual alpha-N- acetylglucosaminidase activity in an unusual sibship. Clin Chim Acta122:135-43 1982
PubMed ID: 6809360
 
Varki A, Kornfeld S, Identification of a rat liver alpha-N-acetylglucosaminyl phosphodiesterase capable of removing "blocking" alpha-N- acetylglucosamine residues from phosphorylated high mannose oligosaccharides of lysosomal enzymes. J Biol Chem255:8398-401 1980
PubMed ID: 6251056

External Links

back to top
dbSNP dbSNP ID: 17888
Gene Cards NAGLU
Gene Ontology GO:0004561 alpha-N-acetylglucosaminidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0007399 neurogenesis
GO:0016798 hydrolase activity, acting on glycosyl bonds
GO:0030203 glycosaminoglycan metabolism
NCBI Gene Gene ID:4669
NCBI GTR 252920 MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
OMIM 252920 MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
Omim Description MPS IIIB
  MUCOPOLYSACCHARIDOSIS TYPE IIIB
  N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY
  N-ACETYLGLUCOSAMINIDASE, ALPHA-, INCLUDED
  NAG POLYMORPHISM, INCLUDED
  NAGLU DEFICIENCYN-ACETYL-ALPHA-D-GLUCOSAMINIDASE POLYMORPHISM, INCLUDED
  NAGLU, INCLUDED
  SANFILIPPO SYNDROME B

Culture Protocols

back to top
Passage Frozen 7
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Ham's F12 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
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
  • NA02552 - DNA
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