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
GM14553 Fibroblast

Description:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1

Affected:

Yes

Sex:

Female

Age:

1 WK (At Sampling)

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Uncertain Biochemical Etiology
Biopsy Source Abdomen
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Deceased at age 25 days; cardiomegaly; hepatosplenomegaly; nephromegaly; hypertension at birth; extensive mineralization of walls of elastic arteries, polyhydramnios & fetal macrosomia; sev atherosclerosis; congestive heart failure; donor subject is a compound heterozygote: one allele carries a T>G transversion at nucleotide 936 (936T>G) in exon 9 of the ENPP1 gene, which results in a nonsense mutation at codon 312 [TYR312TER (Y312X)]; the second allele carries an A>G transition at nucleotide 2375 (2375A>G) in exon 23, which results in a missense mutation at codon 792 [ASN792SER (N792S)].

Characterizations

back to top
Passage Frozen 1
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene ENPP1
Chromosomal Location 6q22-q23
Allelic Variant 1 Y312X; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
Identified Mutation TYR312TER
 
Gene ENPP1
Chromosomal Location 6q22-q23
Allelic Variant 2 N792S; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
Identified Mutation ASN792SER

Phenotypic Data

back to top
Remarks Deceased at age 25 days; cardiomegaly; hepatosplenomegaly; nephromegaly; hypertension at birth; extensive mineralization of walls of elastic arteries, polyhydramnios & fetal macrosomia; sev atherosclerosis; congestive heart failure; donor subject is a compound heterozygote: one allele carries a T>G transversion at nucleotide 936 (936T>G) in exon 9 of the ENPP1 gene, which results in a nonsense mutation at codon 312 [TYR312TER (Y312X)]; the second allele carries an A>G transition at nucleotide 2375 (2375A>G) in exon 23, which results in a missense mutation at codon 792 [ASN792SER (N792S)].

Publications

back to top
Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, Hohne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen JT, Knisely A, Superti-Furga A, McGill J, Filippone M, Sinaiko AR, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, Nurnberg P, Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet34(4):379-81 2003
PubMed ID: 12881724

External Links

back to top
dbSNP dbSNP ID: 14917
Gene Cards ENPP1
Gene Ontology GO:0003676 nucleic acid binding
GO:0004519 endonuclease activity
GO:0004551 nucleotide diphosphatase activity
GO:0006091 energy pathways
GO:0006796 phosphate metabolism
GO:0007584 response to nutrients
GO:0009117 nucleotide metabolism
GO:0016021 integral to membrane
GO:0016787 hydrolase activity
NCBI Gene Gene ID:5167
NCBI GTR 173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1
208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1
OMIM 173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1
208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1
Omim Description ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
  ARTERIOPATHY, OCCLUSIVE INFANTILECORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED

Culture Protocols

back to top
Passage Frozen 1
Split Ratio 1:5
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 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
  • NA14553 - DNA
Same Family
  • 1751
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