GM03557

GM03557 Fibroblast

Description:

WOLMAN DISEASE
LIPASE A, LYSOSOMAL ACID; LIPA

Affected:

No

Sex:

Female

Age:

24 YR (At Sampling)

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

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

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

Split Ratio

1:3

Temperature

37 C

Percent CO2

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:

$373.00USD

Academic/Non-profit/Government:

$216.00USD