NA06122

NA06122 DNA from Fibroblast

Description:

WOLMAN DISEASE
LIPASE A, LYSOSOMAL ACID; LIPA

Affected:

No Data

Sex:

Male

Age:

30 YR (At Sampling)

Overview

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

Relation to Proband

father

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

45% of normal lysosomal acid lipase activity; heterozygous for LIPA gene mutation c.796G>T(p.G266X); clinically unaffected father of GM06144 (fibroblast) and GM27446 (stem cell); mother is GM06123 (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; 45% activity.

Gene

LIPA

Chromosomal Location

10q24-q25

Allelic Variant 1

;

Identified Mutation

Ex7 c.796G>T

Phenotypic Data

Remarks

External Links

dbSNP

dbSNP ID: 17986

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

Pricing

Commercial/For-profit:

$225.00USD

Academic/Non-profit/Government:

$113.00USD