GM14556
LCL from B-Lymphocyte
Description:
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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3
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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 |
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| Gene |
ENPP1 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 1 |
Y312X; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY |
| Identified Mutation |
TYR312TER |
| Remarks |
Father of an affected child, GM14553 (Fibroblast); donor subject 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)]. |
| 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 |
| dbSNP |
dbSNP ID: 23157 |
| Gene Cards |
ENPP1 |
| Gene Ontology |
GO:0003676 nucleic acid binding |
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GO:0004519 endonuclease activity |
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GO:0004551 nucleotide diphosphatase activity |
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GO:0006091 energy pathways |
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GO:0006796 phosphate metabolism |
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GO:0007584 response to nutrients |
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GO:0009117 nucleotide metabolism |
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GO:0016021 integral to membrane |
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GO:0016787 hydrolase activity |
| NCBI Gene |
Gene ID:5167 |
| NCBI GTR |
173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1 |
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208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 |
| OMIM |
173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1 |
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208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 |
| Omim Description |
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY |
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ARTERIOPATHY, OCCLUSIVE INFANTILECORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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