GM10440
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 |
Other Disorders of Known Biochemistry |
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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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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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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 |
P305T; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY |
| Identified Mutation |
PRO305THR |
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| Gene |
ENPP1 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 2 |
P305T; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY |
| Identified Mutation |
PRO305THR |
| Remarks |
Similarly affected sib died shortly after delivery; another sib died of hydrops in utero at 30+ weeks; IACI diagnosed in utero by hyperechogenicity; edema & generalized calcification found in arteries; see GM10439 Fibroblast; donor subject is homozygous for a C>A transversion at nucleotide 913 in exon 8 of the ENPP1 gene resulting in the substitution of threonine for proline at codon 305 [Pro305Thr (P305T)] |
| Ruf N, Uhlenberg B, Terkeltaub R, Nurnberg P, Rutsch F, The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). Hum Mutat25(1):98 2005 |
| PubMed ID: 15605415 |
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| Bellah RD, Zawodniak L, Librizzi RJ, Harris MC, Idiopathic arterial calcification of infancy: prenatal and postnatal effects of therapy in an infant [see comments] J Pediatr121:930-3 1992 |
| PubMed ID: 1447660 |
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| van de Woestijne, Idiopathic arterial calcification of infancy and hydrops fetalis associated with maternal anticardiolipin antibody. Pediatr Pathol8:675 (1988):930-3 1988 |
| PubMed ID: 1447660 |
| dbSNP |
dbSNP ID: 18813 |
| 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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