GM01931

GM01931 Fibroblast

Description:

CATALASE; CAT ACATALASEMIA, INCLUDED

Affected:

No Data

Sex:

Male

Age:

73 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Other Disorders of Known Biochemistry

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Relation to Proband

parent

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Swiss; father of an affected child; proband not in Repository

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Swiss; father of an affected child; proband not in Repository

External Links

dbSNP

dbSNP ID: 15821

Gene Cards

CAT

Gene Ontology

GO:0004096 catalase activity

GO:0004601 peroxidase activity

GO:0005777 peroxisome

GO:0006118 electron transport

GO:0006979 response to oxidative stress

GO:0016491 oxidoreductase activity

NCBI Gene

Gene ID:847

NCBI GTR

115500 CATALASE; CAT

OMIM

115500 CATALASE; CAT

Omim Description

ACATALASIA, INCLUDED

CATALASE DEFICIENCY, INCLUDED

CATALASE; CATACATALASEMIA, INCLUDED

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

International/Commercial/For-profit:

$373.00USD

U.S. Academic/Non-profit/Government:

$216.00USD