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GM03557
Fibroblast
Description:
WOLMAN DISEASE
LIPASE A, LYSOSOMAL ACID; LIPA
Affected:
No
Sex:
Female
Age:
24
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
Lysosomal Storage Diseases
Class
Disorders of Lipid Metabolism
Cell Type
Fibroblast
Transformant
Untransformed
Race
Black/African American
Family Member
2
Relation to Proband
mother
Confirmation
Clinical summary/Case history
ISCN
46,XX
Species
Homo
sapiens
Common Name
Human
Remarks
Possible carrier levels of acid lipase; 46,XX; clinically unaffected mother of GM02109B; heterozygous for LIPA gene mutation c.256C>T (p.H86Y)
Characterizations
Passage Frozen
6
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis
Gene
LIPA
Chromosomal Location
10q24-q25
Allelic Variant 1
;
Identified Mutation
Ex4 c.256C>T
Phenotypic Data
Remarks
Possible carrier levels of acid lipase; 46,XX; clinically unaffected mother of GM02109B; heterozygous for LIPA gene mutation c.256C>T (p.H86Y)
External Links
dbSNP
dbSNP ID: 20665
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
Culture Protocols
Passage Frozen
6
Split Ratio
1:3
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
-
Pricing
Commercial/For-profit:
$373.00
USD
Academic/Non-profit/Government:
$216.00
USD
Add to Cart
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