GM18313
Fibroblast from Skin, Unspecified
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 |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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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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| ceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.1.23; 0.5% activity. |
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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; at four months of age developed progressive hoarseness advancing to aphonia at 5 months; joint involvement, first in hands, and later generalized; subcutaneous nodules in the lumbar and abdominal region; failure to thrive; suspected psychomotor regression; acid ceramidase enzyme 0.01umol/h/mg (control 1.89umol/h/mg); died at 11 months of age |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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