NA00863
DNA from Fibroblast
Description:
WOLMAN DISEASE
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Ethnicity
|
LATIN AMERICAN
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
10 |
| |
| 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; <5% activity. |
| |
| Gene |
LIPA |
| Chromosomal Location |
10q24-q25 |
| Allelic Variant 1 |
; |
| Identified Mutation |
Ex4 c.290C>G |
| |
| Gene |
LIPA |
| Chromosomal Location |
10q24-q25 |
| Allelic Variant 2 |
; |
| Identified Mutation |
Ex4 c.353G>A |
| Remarks |
Latin American; two similarly affected sisters; less than 5% of normal acid lipase activity in fibroblasts; CRM+ with antibodies to acid lipase; heterozygous for LIPA gene mutations c.290C>G (p.T97R) and c.353G>A (p.G118D) |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| Beaudet AL, Ferry GD, Nichols BL Jr, Rosenberg HS, Cholesterol ester storage disease: clinical, biochemical, and pathological studies. J Pediatr90:910-4 1977 |
| PubMed ID: 859064 |
| |
| Beaudet AL, Lipson MH, Ferry GD, Nichols BL Jr, Acid lipase in cultured fibroblasts: cholesterol ester storage disease. J Lab Clin Med84:54-61 1974 |
| PubMed ID: 4833843 |
|
|