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
GM12367 Fibroblast

Description:

GALACTOSIALIDOSIS; GSL

Affected:

Yes

Sex:

Female

Age:

7 MO (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
Class Disorders of Carbohydrate Metabolism
Cell Type Fibroblast
Transformant Untransformed
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Develop delay; poor head control; coarse facial features; facial edema; cherryred maculae; corneal clouding; decreased visual acuity; nystagmus; hypotonia with persistent fisting; organomegaly; macrocephaly; B-gal & A-neur def; P2 at CCR

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
 
exo-alpha-sialidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.18
 

Phenotypic Data

back to top
Remarks Develop delay; poor head control; coarse facial features; facial edema; cherryred maculae; corneal clouding; decreased visual acuity; nystagmus; hypotonia with persistent fisting; organomegaly; macrocephaly; B-gal & A-neur def; P2 at CCR

External Links

back to top
dbSNP dbSNP ID: 20302
Gene Cards PPGB
Gene Ontology GO:0004186 carboxypeptidase C activity
GO:0005478 intracellular transporter activity
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0006508 proteolysis and peptidolysis
GO:0006886 intracellular protein transport
GO:0008047 enzyme activator activity
GO:0016787 hydrolase activity
NCBI Gene Gene ID:5476
NCBI GTR 256540 GALACTOSIALIDOSIS; GSL
OMIM 256540 GALACTOSIALIDOSIS; GSL
Omim Description BETA-GALACTOSIDASE 2; GLB2, INCLUDED
  CATHEPSIN A, DEFICIENCY OF
  GALACTOSIALIDOSIS; GSL
  GOLDBERG SYNDROME
  LYSOSOMAL PROTECTIVE PROTEIN, DEFICIENCY OF
  NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY
  NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION; NGBE
  PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY; PPCA DEFICIENCYBETA-GALACTOSIDASE PROTECTIVE PROTEIN; PPGB, INCLUDED
  PROTECTIVE PROTEIN/CATHEPSIN A; PPCA, INCLUDED CARBOXYPEPTIDASE L,INCLUDED

Culture Protocols

back to top
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 10% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement Sodium Pyruvate 100mM
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
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