GM05748
LCL from B-Lymphocyte
Description:
FARBER LIPOGRANULOMATOSIS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
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
|
|
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
|
White
|
|
Family Member
|
1
|
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Relation to Proband
|
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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|
| ceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.1.23; 0% activity. |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Hepatosplenomegaly; nodules on hands and feet; pulmonary infiltrates; anemia; hoarse cry; adenopathy; elevated liver ceramide level; undetectable acid ceramidase activity in leukocytes and fibroblasts; similarly affected sib; see GM05752 Fibro |
| Segui B, Bezombes C, Uro-Coste E, Medin JA, Andrieu-Abadie N, Auge N, Brouchet A, Laurent G, Salvayre R, Jaffrezou JP, Levade T, Stress-induced apoptosis is not mediated by endolysosomal ceramide. FASEB J14:36-47 2000 |
| PubMed ID: 10627278 |
| |
| Antonarakis, Farbers lipogranulomatosis: Variability of expression and clinical overlap with histiocytosis. Pediatr Res17:206A (1983):36-47 1983 |
| PubMed ID: 10627278 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
|