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search submit
NA06123
DNA
from
Fibroblast
Description:
WOLMAN DISEASE
LIPASE A, LYSOSOMAL ACID; LIPA
Affected:
No Data
Sex:
Female
Age:
25
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
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
Family Member
2
Relation to Proband
mother
Confirmation
Clinical summary/Case history
Species
Homo
sapiens
Common Name
Human
Remarks
50% of normal lysosomal acid lipase activity; heterozygous for LIPA gene mutation c.594dupT(p.A199Cfs*13); clinically unaffected mother of GM06144 (fibroblast) and GM27446 (stem cell); father is GM06122 (fibroblast).
Passage Frozen
11
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
sterol esterase
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.1.13; 50% activity.
Gene
LIPA
Chromosomal Location
10q24-q25
Allelic Variant 1
;
Identified Mutation
Ex6 c.594dupT
Remarks
50% of normal lysosomal acid lipase activity; heterozygous for LIPA gene mutation c.594dupT(p.A199Cfs*13); clinically unaffected mother of GM06144 (fibroblast) and GM27446 (stem cell); father is GM06122 (fibroblast).
No data is available
dbSNP
dbSNP ID: 15854
Gene Cards
LIPA
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
613497 LIPASE A, LYSOSOMAL ACID; LIPA
OMIM
278000 LYSOSOMAL ACID LIPASE DEFICIENCY
613497 LIPASE A, LYSOSOMAL ACID; LIPA
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
No data is available
No data is available
Pricing
Commercial/For-profit:
$180.00
USD
Academic/Non-profit/Government:
$92.00
USD
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