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
GM29682 iPSC from Fibroblast

Description:

MUCOPOLYSACCHARIDOSIS TYPE IIIB
N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU

Affected:

Yes

Sex:

Male

Age:

7 YR (At Sampling)

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Protocols Protocol PDF
Biopsy Source Skin
Cell Type Stem cell
Cell Subtype Induced pluripotent stem cell
Transformant Reprogrammed (Sendai)
Sample Source iPSC from Fibroblast
Race White
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
ISCN 46,XY[20]
Species Homo sapiens
Common Name Human
Remarks Cell line ID: TRNDi042-A (PMID: 39579553). Reprogrammed from parental fibroblast GM00156. No detectable N-acetyl-alpha-D glucosaminidase activity; 46,XY; homozygous for a C>T transition at nucleotide 1876 (1876C>T) of the NAGLU gene resulting in a substitution of a termination codon at position 626 for Arg [Arg626ter (R626X)]. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune.

Characterizations

back to top
Passage Frozen 27
 
Induced Pluripotent Stem Cell The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis.
 
Gene NAGLU
Chromosomal Location 17q21
Allelic Variant 1 609701.0002; MUCOPOLYSACCHARIDOSIS TYPE IIIB
Identified Mutation ARG626TER; In a cell line from a patient with Sanfilippo syndrome type B, GM00156, Zhao et al. [Proc. Natl. Acad. Sci. USA 93:6101-6105 (1996)] found homozygosity for an arg626-to-ter (R626X) premature termination mutation.

Phenotypic Data

back to top
Remarks Cell line ID: TRNDi042-A (PMID: 39579553). Reprogrammed from parental fibroblast GM00156. No detectable N-acetyl-alpha-D glucosaminidase activity; 46,XY; homozygous for a C>T transition at nucleotide 1876 (1876C>T) of the NAGLU gene resulting in a substitution of a termination codon at position 626 for Arg [Arg626ter (R626X)]. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune.

External Links

back to top
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 27
Split Ratio 1:10
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium mTeSR1
Serum none
Substrate Matrigel
Supplement -
Pricing
International/Commercial/For-profit:
$1,789.00USD
U.S. Academic/Non-profit/Government:
$1,110.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • NA00156 - DNA
  • GM00156 - Fibroblast
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