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NA14554 DNA from LCL

Description:

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

Affected:

No Data

Sex:

Female

Age:

28 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Uncertain Biochemical Etiology
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
Family Member 2
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Mother of an affected child, GM14553 (Fibroblast); donor subject carries an A>G transition at nucleotide 2375 (2375A>G) in exon 23 of the ENPP1 gene, which results in a missense mutation at codon 792 [ASN792SER (N792S)].

Characterizations

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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 N792S; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
Identified Mutation ASN792SER

Phenotypic Data

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Remarks Mother of an affected child, GM14553 (Fibroblast); donor subject carries an A>G transition at nucleotide 2375 (2375A>G) in exon 23 of the ENPP1 gene, which results in a missense mutation at codon 792 [ASN792SER (N792S)].

Publications

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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

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dbSNP dbSNP ID: 17650
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
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM14554 - B-Lymphocyte
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