GM12029

GM12029 Fibroblast

Description:

GLUTARICACIDEMIA I
GLUTARYL-COA DEHYDROGENASE; GCDH

Affected:

Yes

Sex:

No Data

Age:

No Data

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Amino Acid Metabolism

Cell Type

Fibroblast

Transformant

Untransformed

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

The donor subject is homozygous for a C-to-T transition (CGG>TGG) at nucleotide 1204 in exon 10 of the GCDH gene which results in a substitution of tryptophan for arginine at codon 402 [ARG402TRP (R402W)].

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

GCDH

Chromosomal Location

19p13.2

Allelic Variant 1

608801.0004; GLUTARICACIDEMIA I

Identified Mutation

ARG402TRP

Gene

GCDH

Chromosomal Location

19p13.2

Allelic Variant 2

608801.0004; GLUTARICACIDEMIA I

Identified Mutation

ARG402TRP

Phenotypic Data

Remarks

External Links

dbSNP

dbSNP ID: 20289

Gene Cards

GCDH

Gene Ontology

GO:0004361 glutaryl-CoA dehydrogenase activity

GO:0005739 mitochondrion

GO:0006118 electron transport

GO:0016491 oxidoreductase activity

NCBI Gene

Gene ID:2639

NCBI GTR

231670 GLUTARIC ACIDEMIA I; GA1

608801 GLUTARYL-COA DEHYDROGENASE; GCDH

OMIM

231670 GLUTARIC ACIDEMIA I; GA1

608801 GLUTARYL-COA DEHYDROGENASE; GCDH

Omim Description

GA I

GLUTARICACIDEMIA I

GLUTARICACIDURIA I

GLUTARYL-CoA DEHYDROGENASE DEFICIENCYGLUTARYL-CoA DEHYDROGENASE, INCLUDED; GCDH, INCLUDED

Culture Protocols

Split Ratio

1:4

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:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

GLUTARICACIDEMIA I GLUTARYL-COA DEHYDROGENASE; GCDH

Affected:

Yes

Sex:

No Data

Age:

No Data

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

GLUTARICACIDEMIA I
GLUTARYL-COA DEHYDROGENASE; GCDH