GM23427

GM23427 LCL from B-Lymphocyte

Description:

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
ORNITHINE CARBAMOYLTRANSFERASE; OTC

Affected:

No

Sex:

Female

Age:

52 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

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Subject is asymptomatic; ADHD; positive family history; neurological evaluation was normal at age 3 years; IQ = 87; donor subject is heterozygous for a deletion of exon 5 in the OTC gene.

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

EX5 DEL

Phenotypic Data

Remarks

Subject is asymptomatic; ADHD; positive family history; neurological evaluation was normal at age 3 years; IQ = 87; donor subject is heterozygous for a deletion of exon 5 in the OTC gene.