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
NA25330 DNA from LCL

Description:

CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
N-GLYCANASE 1; NGLY1
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5; MHS5
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S

Affected:

Yes

Sex:

Male

Age:

10 YR (At Sampling)

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
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
Race White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 1
Family History Y
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; onset of symptoms at 12 months old; diagnosed at 10 years of age; ataxia; cerebral palsy; hypotonia; hand tremors; developmental delay; myopathic facial expression; whole exome sequence analysis reveals the subject is compound heterozygous for a p.Q208X variant (p.Gln208Stop, c.622 C>T) in exon 4 and a p.G310G variant (p.Gly310Gly, c.930 C>T) in exon 6 of the NGLY1 gene; subject also found to be heterozygous for a c.4060 A>T mutation (Thr1354Ser) in the CACNA1S gene – (malignant hyperthermia susceptibility; reported as ACMG incidental finding). Test was performed using genomic DNA, the whole exome sequence was mapped and analyzed in comparison with the published human genome build UCSC hg19 reference sequence; father (not in repository) is heterozygous for the Q208X mutation in the NGLY1 gene; mother (not in repository) is heterozygous for the G310G mutation in the NGLY1 gene and heterozygous for the Thr1354Ser mutation in the CACNA1S gene; sister with similar phenotype and the same genetic test results as this subject is GM25331 (lymphoblast) and GM25343 (fibroblast); same subject as GM25344 (fibroblast) and GM27381 (stem cell).

Characterizations

back to top
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene NGLY1
Chromosomal Location 3p24.2
Allelic Variant 1 p.G310G; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
Identified Mutation GLY310GLY; The NGLY1 gene encodes N-glycanase (EC 3.5.1.52), a highly conserved enzyme that catalyzes deglycosylation of misfolded N-linked glycoproteins by cleaving the glycan chain before the proteins are degraded by the proteasome (Zhou et al., 2006). NGLY1 is a cytoplasmic component of the endoplasmic reticulum-associated degradation (ERAD) pathway that identifies and degrades misfolded glycoproteins (summary by Enns et al., 2014).
 
Gene CACNA1S
Chromosomal Location 1q32.1
Allelic Variant 1 ; MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
Identified Mutation THR1354SER; The major type of voltage-sensitive Ca(2+) channels in skeletal muscle is the slowly inactivating L-type that is sensitive to calcium channel blockers such as 1,4-dihydropyridines (DHP), phenylalkylamines, and benzothiazepines. These skeletal muscle Ca(2+) channels play a key role in excitation-contraction coupling, a process whereby electrical signals generated by action potentials at the muscle cell surface are transduced into intracellular release of calcium and ultimately muscle fiber contraction. The DHP-sensitive L-type Ca(2+) channel from skeletal muscle is an oligomeric protein composed of 2 high molecular weight polypeptide subunits (alpha-1 and alpha-2) and 3 smaller units (beta, gamma, and delta).
 
Gene NGLY1
Chromosomal Location 3p24.2
Allelic Variant 1 p.Q208X; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
Identified Mutation GLN208TER

Phenotypic Data

back to top
Remarks Clinically affected; onset of symptoms at 12 months old; diagnosed at 10 years of age; ataxia; cerebral palsy; hypotonia; hand tremors; developmental delay; myopathic facial expression; whole exome sequence analysis reveals the subject is compound heterozygous for a p.Q208X variant (p.Gln208Stop, c.622 C>T) in exon 4 and a p.G310G variant (p.Gly310Gly, c.930 C>T) in exon 6 of the NGLY1 gene; subject also found to be heterozygous for a c.4060 A>T mutation (Thr1354Ser) in the CACNA1S gene – (malignant hyperthermia susceptibility; reported as ACMG incidental finding). Test was performed using genomic DNA, the whole exome sequence was mapped and analyzed in comparison with the published human genome build UCSC hg19 reference sequence; father (not in repository) is heterozygous for the Q208X mutation in the NGLY1 gene; mother (not in repository) is heterozygous for the G310G mutation in the NGLY1 gene and heterozygous for the Thr1354Ser mutation in the CACNA1S gene; sister with similar phenotype and the same genetic test results as this subject is GM25331 (lymphoblast) and GM25343 (fibroblast); same subject as GM25344 (fibroblast) and GM27381 (stem cell).

Publications

back to top
Sarute N, Ross SR, CACNA1S haploinsufficiency confers resistance to New World arenavirus infection Proceedings of the National Academy of Sciences of the United States of America117:19497-19506 2020
PubMed ID: 32719120

External Links

back to top
Gene Cards CACNA1S
NGLY1
Gene Ontology GO:0005509 calcium ion binding
GO:0005624 membrane fraction
GO:0005891 voltage-gated calcium channel complex
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0006936 muscle contraction
GO:0015270 dihydropyridine-sensitive calcium channel activity
GO:0016021 integral to membrane
NCBI Gene Gene ID:779
NCBI GTR 114208 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S
601887 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; MHS5
610661 N-GLYCANASE 1; NGLY1
615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
OMIM 114208 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S
601887 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; MHS5
610661 N-GLYCANASE 1; NGLY1
615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
Pricing
Commercial/For-profit:
$281.00USD
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
  • GM25330 - B-Lymphocyte
  • GM27381 - Stem cell
Same Family
  • 3196
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