GM10441
LCL from B-Lymphocyte
Description:
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
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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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2
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Relation to Proband
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mother
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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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| Remarks |
Clinically unaffected; 2 affected children; treated with subcutaneous heparin for anticardiolipin antibody positively associated with a history of phlebitis & pulmonary thromboemboli |
| 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: 16018 |
| NCBI GTR |
208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 |
| OMIM |
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 |
1:3 |
| 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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