Description:
WOLMAN DISEASE
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| sterol esterase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.1.13 |
| |
| Remarks |
Deficient lysosomal acid lipase activity; CRM+ with antibodies to acid lipase |
| Hilaire N, Salvayre R, Thiers JC, Bonnafe MJ, Negre-Salvayre A, The turnover of cytoplasmic triacylglycerols in human fibroblasts involves two separate acyl chain length-dependent degradation pathways. J Biol Chem270:27027-34 1995 |
| PubMed ID: 7592952 |
| |
| Markello TC, Guo J, Gahl WA, High-performance liquid chromatography of lipids for the identification of human metabolic disease. Anal Biochem198:368-74 1991 |
| PubMed ID: 1799224 |
| |
| van Diggelen OP, von Koskull H, Ammala P, Vredeveldt GT, Janse HC, Kleijer WJ, First trimester diagnosis of Wolman's disease. Prenat Diagn8:661-3 1988 |
| PubMed ID: 3211854 |
| |
| Williams ML, Monger DJ, Rutherford SL, Hincenbergs M, Rehfeld SJ, Grunfeld C, Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. J Inherit Metab Dis11:131-43 1988 |
| PubMed ID: 3139924 |
| |
| Slotte JP, Intracellular processing of exogenously derived non-lipoprotein [3H]cholesterol in normal and mutant human skin fibroblasts deficient in acid sterol ester hydrolase. Biochim Biophys Acta917:231-7 1987 |
| PubMed ID: 3801499 |
| |
| Landas S, Foucar K, Sando GN, Ellefson R, Hamilton HE, Adult Niemann-Pick disease masquerading as sea blue histiocyte syndrome: report of a case confirmed by lipid analysis and enzyme assays. Am J Hematol20:391-400 1985 |
| PubMed ID: 4073013 |
| |
| Negre A, Salvayre R, Dagan A, Borrone C, Gatt S, New spectrophotometric assays of acid lipase and their use in the diagnosis of Wolman and cholesteryl ester storage diseases. Anal Biochem145:398-405 1985 |
| PubMed ID: 4014671 |
| |
| Sando GN, Rosenbaum LM, Human lysosomal acid lipase/cholesteryl ester hydrolase. Purification and properties of the form secreted by fibroblasts in microcarrier culture. J Biol Chem260:15186-93 1985 |
| PubMed ID: 4066668 |
| |
| Sando GN, Henke VL, Recognition and receptor-mediated endocytosis of the lysosomal acid lipase secreted by cultured human fibroblasts. J Lipid Res23:114-23 1982 |
| PubMed ID: 7057100 |
| |
| Burton BK, Reed SP, Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease. Am J Hum Genet33:203-8 1981 |
| PubMed ID: 6782865 |
| |
| Koch G, Lalley PA, McAvoy M, Shows TB, Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19. Somatic Cell Genet7:345-58 1981 |
| PubMed ID: 7292252 |
| |
| Beaudet AL, Hampton MS, Patel K, Sparrow JT, Acidic phospholipases in cultured human fibroblasts: deficiency of phospholipase C in Niemann-Pick disease. Clin Chim Acta108:403-14 1980 |
| PubMed ID: 6781796 |
| |
| Michels VV, Beaudet AL, Cholesteryl lignocerate hydrolysis in adrenoleukodystrophy. Pediatr Res14:21-3 1980 |
| PubMed ID: 6767215 |
| Passage Frozen |
6 |
| 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 |
- |
|