GM23851

GM23851 LCL from B-Lymphocyte

Description:

CITRULLINEMIA, CLASSIC
ARGININOSUCCINATE SYNTHETASE 1; ASS1

Affected:

At Risk

Sex:

Male

Age:

1 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

Hispanic/Latino

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

Subject is asymptomatic; pathogenic mutations identified in the ASS1 gene: c.805 G>A (pV269M), c.814 C>T (p.R272C); diagnosed at newborn screening; treatment includes citrulline arginine supplement.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

ASS1

Chromosomal Location

9q34

Allelic Variant 1

Val>Met; CITRULLINEMIA

Identified Mutation

c.805G>A

Gene

ASS1

Chromosomal Location

9q34

Allelic Variant 2

Arg>Cys; CITRULLINEMIA

Identified Mutation

c.814C>T

Phenotypic Data

Remarks

Subject is asymptomatic; pathogenic mutations identified in the ASS1 gene: c.805 G>A (pV269M), c.814 C>T (p.R272C); diagnosed at newborn screening; treatment includes citrulline arginine supplement.