Description:
FARBER LIPOGRANULOMATOSIS
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Cell Type
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Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
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White
|
|
Ethnicity
|
IRISH
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
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Homo sapiens
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|
Common Name
|
Human
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|
Remarks
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|
| Passage Frozen |
4 |
| |
| ceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.1.23 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically affected; deficient acid ceramidase; daughter of GM02316 and 02317 |
| Zhang Z, Mandal AK, Mital A, Popescu N, Zimonjic D, Moser A, Moser H, Mukherjee AB, Human acid ceramidase gene: novel mutations in Farber disease. Mol Genet Metab70(4):301-9 2000 |
| PubMed ID: 10993717 |
| Passage Frozen |
4 |
| Split Ratio |
1:4 |
| 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 |
- |
|