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NA00863 DNA from Fibroblast

Description:

WOLMAN DISEASE

Affected:

Yes

Sex:

Female

Age:

11 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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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 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)

Characterizations

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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

Phenotypic Data

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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)

Publications

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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

External Links

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dbSNP dbSNP ID: 16927
Gene Ontology GO:0004465 lipoprotein lipase activity
GO:0004771 sterol esterase activity
GO:0005764 lysosome
GO:0006487 N-linked glycosylation
GO:0016042 lipid catabolism
GO:0016787 hydrolase activity
NCBI Gene Gene ID:3988
NCBI GTR 278000 LYSOSOMAL ACID LIPASE DEFICIENCY
OMIM 278000 LYSOSOMAL ACID LIPASE DEFICIENCY
Omim Description ACID CHOLESTERYL ESTER HYDROLASE DEFICIENCY, TYPE 2LIPASE A, LYSOSOMAL ACID, INCLUDED; LIPA, INCLUDED
  ACID CHOLESTERYL ESTER HYDROLASE DEFICIENCY, WOLMAN TYPE
  CHOLESTEROL ESTER HYDROLASE DEFICIENCY
  CHOLESTEROL ESTER HYDROLASE, INCLUDED
  CHOLESTEROL ESTER STORAGE DISEASE; CESD
  CHOLESTERYL ESTER STORAGE DISEASE
  LAL DEFICIENCY
  LIPA DEFICIENCY
  LYSOSOMAL ACID LIPASE DEFICIENCY
  WOLMAN DISEASE
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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