Description:
FARBER LIPOGRANULOMATOSIS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Class |
Disorders of Lipid Metabolism |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
IRISH
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
4 |
|
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 |
|
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 |
- |
|
|