GM03590

GM03590 Fibroblast

Description:

PROPIONIC ACIDEMIA

Affected:

Yes

Sex:

Male

Age:

22 FW (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Amino Acid Metabolism

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Deficient propionyl CoA carboxylase activity; complementation group C

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

propionyl-CoA carboxylase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.4.1.3

Phenotypic Data

Remarks

Deficient propionyl CoA carboxylase activity; complementation group C

Publications

Rodriguez-Pombo P, Hoenicka J, Muro S, Perez B, Perez-Cerda C, Richard E, Desviat LR, Ugarte M, Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. Am J Hum Genet63:360-9 1998

PubMed ID: 9683601

External Links

dbSNP

dbSNP ID: 14259

NCBI GTR

606054 PROPIONIC ACIDEMIA

OMIM

606054 PROPIONIC ACIDEMIA

Omim Description

PROPIONIC ACIDEMIA

Culture Protocols

Passage Frozen

Split Ratio

1:5

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