GM06123

GM06123 Fibroblast

Description:

WOLMAN DISEASE
LIPASE A, LYSOSOMAL ACID; LIPA

Affected:

No Data

Sex:

Female

Age:

25 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

White

Family Member

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).

Characterizations

Passage Frozen

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

Phenotypic Data

Remarks

External Links

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

Culture Protocols

Passage Frozen

Split Ratio

1:3

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

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

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD