GM18362
LCL from B-Lymphocyte
Description:
PSEUDONEONATAL ADRENOLEUKODYSTROPHY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
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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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Ethnicity
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PALESTINIAN
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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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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 affected; three tonic-clonic seizures at age 3 months; hypotonia; slow but steady development; at nine months said to have low tone; dysmetria; the amount of C26:0 ug/ml is 4.7 times the mean of our normal control range; phytanic acid is at the upper limit of normal; very long chain fatty acids are higher than normal; see GM18363 Fibroblast |
| dbSNP |
dbSNP ID: 13967 |
| Gene Cards |
ACOX |
| Gene Ontology |
GO:0003997 acyl-CoA oxidase activity |
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GO:0005777 peroxisome |
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GO:0006091 energy pathways |
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GO:0006118 electron transport |
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GO:0006635 fatty acid beta-oxidation |
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GO:0006693 prostaglandin metabolism |
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GO:0009053 electron donor activity |
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GO:0016491 oxidoreductase activity |
| NCBI Gene |
Gene ID:51 |
| NCBI GTR |
264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY |
| OMIM |
264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY |
| Omim Description |
ACYL-CoA OXIDASE, INCLUDED; ACOX, INCLUDED |
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ACYL-CoA OXIDASE, PALMITOYL, PEROXISOMAL, INCLUDED |
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ADRENOLEUKODYSTROPHY, PSEUDONEONATALACYL-COENZYME A OXIDASE 1, PALMITOYL, INCLUDED; ACOX1, INCLUDED |
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PALMITOYL-CoA OXIDASE, INCLUDED |
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PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY |
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PSEUDONEONATAL ADRENOLEUKODYSTROPHY |
| 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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