NA23437

NA23437 DNA from LCL

Description:

ARGININOSUCCINIC ACIDURIA
ARGININOSUCCINATE LYASE; ASL

Affected:

Yes

Sex:

Female

Age:

15 YR (At Sampling)

Overview

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Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Disorders of the Urea Cycle

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Race

White

Ethnicity

Not Hispanic/Latino

Family History

N

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; onset of symptoms at age 12 years; elevated argininosuccinic acid in blood and urine; learning disabilities; mental retardation with developmental delay; on citrulline arginine supplement; protein restriction; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 839 in the ASL gene (839delG); the second allele has a G>A transition at nucleotide 35 in exon 2 of the ASL gene (35G>A) resulting in the substitution of glutamine for arginine at codon 12 [Arg12Gln (R12Q)]

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

ASL

Chromosomal Location

7cen-q11.2

Allelic Variant 1

; ARGININOSUCCINIC ACIDURIA

Identified Mutation

839delG

Gene

ASL

Chromosomal Location

7cen-q11.2

Allelic Variant 2

R12Q; ARGININOSUCCINIC ACIDURIA

Identified Mutation

ARG12GLN

Phenotypic Data

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Remarks

Clinically affected; onset of symptoms at age 12 years; elevated argininosuccinic acid in blood and urine; learning disabilities; mental retardation with developmental delay; on citrulline arginine supplement; protein restriction; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 839 in the ASL gene (839delG); the second allele has a G>A transition at nucleotide 35 in exon 2 of the ASL gene (35G>A) resulting in the substitution of glutamine for arginine at codon 12 [Arg12Gln (R12Q)]

External Links

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Gene Cards

Gene Ontology

GO:0000050 urea cycle

GO:0004056 argininosuccinate lyase activity

GO:0005737 cytoplasm

GO:0006526 arginine biosynthesis

GO:0006527 arginine catabolism

GO:0016829 lyase activity

NCBI Gene

NCBI GTR

207900 ARGININOSUCCINIC ACIDURIA

608310 ARGININOSUCCINATE LYASE; ASL

OMIM

207900 ARGININOSUCCINIC ACIDURIA

608310 ARGININOSUCCINATE LYASE; ASL

Omim Description

ARGININOSUCCINASE DEFICIENCY

ARGININOSUCCINATE LYASE DEFICIENCY

ARGININOSUCCINIC ACID LYASE DEFICIENCY

ARGININOSUCCINICACIDURIA

ASAL DEFICIENCY

ASL DEFICIENCY

Pricing

Commercial/For-profit:

$225.00USD

Academic/Non-profit/Government:

$113.00USD