GM23858

GM23858 LCL from B-Lymphocyte

Description:

N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGS DEFICIENCY

Affected:

At Risk

Sex:

Female

Age:

20 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Disorders of the Urea Cycle

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

Not Hispanic/Latino

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

Decreased (<20% of control) NAGS enzyme activity in liver; pathogenic mutation identified in NAGS gene: -3063 C>A(start ATG=nucleotide#1); residual enzyme activity 26% of normal control; treatment includes: citrulline arginine supplement, sodium phenybutrate, and protein restriction; past hyperammonemic events; normal neurologic evaluation at age 6.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

OTC

Chromosomal Location

Xp21.1

Allelic Variant 1

; OTC Deficiency

Identified Mutation

-3063 C>A

Phenotypic Data

Remarks

External Links

NCBI GTR

237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD

OMIM

237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD

Omim Description

HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY

N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY

NAGS DEFICIENCY

Culture Protocols

Split Ratio

1:3

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not Inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD