GM26179

GM26179 LCL from B-Lymphocyte

Description:

ARGININOSUCCINIC ACIDURIA
ARGININOSUCCINATE LYASE; ASL

Affected:

Yes

Sex:

Female

Age:

15 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

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; ASL deficiency; arginiosuccinic aciduria in blood; biochemical evidence- plasma ASA 129 uM; learning disability; protein restriction; citrulline arginine supplement; shares familial compound heterozygous mutations of ASL gene, c.532G>A (p.V178M) and c.578G>A (p.R193Q) with brother GM26180.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

ASL

Chromosomal Location

7cen-q11.2

Allelic Variant 1

608310.0005; ARGININOSUCCINIC ACIDURIA

Identified Mutation

VAL178MET; In a patient from a family with variable age of onset of ASL deficiency (207900) and considerable residual ASL activity, Kleijer et al. (2002) identified a homozygous 532G-A transition in the ASL gene, resulting in a val178-to-met (V178M) substitution.

Gene

ASL

Chromosomal Location

7cen-q11.2

Allelic Variant 1

p.R193Q; ARGININOSUCCINIC ACIDURIA

Identified Mutation

ARG193GLN

Gene

ASL

Chromosomal Location

7cen-q11.2

Allelic Variant 2

p.R193Q; ARGININOSUCCINIC ACIDURIA

Identified Mutation

ARG193GLN

Gene

ASL

Chromosomal Location

7cen-q11.2

Allelic Variant 2

608310.0005; ARGININOSUCCINIC ACIDURIA

Identified Mutation

Phenotypic Data

Remarks

Publications

Barbosa P1, Cialkowski M, O'Brien WE, Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. J Biol Chem.266(8):5286-90 1991

PubMed ID: 1705937