Description:
FARBER LIPOGRANULOMATOSIS
|
Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
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Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
3.1 |
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| ceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.1.23; 0% activity. |
| |
| 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 bro; see GM05748 Lymph |
| Chen Y1,2, Jian J1, Hettinghouse A1, Zhao X3, Setchell KDR3, Sun Y3, Liu CJ4,5, Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease J Mol Med96:1359-1373 2018 |
| PubMed ID: 30341570 |
| |
| Antonarakis, Farbers lipogranulomatosis: Variability of expression and clinical overlap with histiocytosis. Pediatr Res17:206A (1983):1359-1373 1983 |
| PubMed ID: 30341570 |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
|
|