NA16394

NA16394 DNA from Fibroblast

Description:

GLUTARICACIDEMIA I
GLUTARYL-COA DEHYDROGENASE; GCDH

Affected:

Yes

Sex:

Male

Age:

1 YR (At Sampling)

Overview

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Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Amino Acid Metabolism

Quantity

50 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; the donor subject is a compound heterozygote; one allele carries a C-to-A transition (CGC>AGC) at nucleotide 298 (c.262) in exon 3 of the GCDH gene which results in a substitution of serine for arginine at codon 88 [ARG88SER (R88S)]; the second allele carries 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

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Passage Frozen

6

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

R88S; GLUTARICACIDEMIA I

Identified Mutation

ARG88SER

Gene

GCDH

Chromosomal Location

19p13.2

Allelic Variant 2

608801.0004; GLUTARICACIDEMIA I

Identified Mutation

ARG402TRP

Phenotypic Data

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Remarks

Clinically affected; the donor subject is a compound heterozygote; one allele carries a C-to-A transition (CGC>AGC) at nucleotide 298 (c.262) in exon 3 of the GCDH gene which results in a substitution of serine for arginine at codon 88 [ARG88SER (R88S)]; the second allele carries 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)].

External Links

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dbSNP

dbSNP ID: 21146

Gene Cards

Gene Ontology

GO:0004361 glutaryl-CoA dehydrogenase activity

GO:0005739 mitochondrion

GO:0006118 electron transport

GO:0016491 oxidoreductase activity

NCBI Gene

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

Pricing

Commercial/For-profit:

$225.00USD

Academic/Non-profit/Government:

$113.00USD