GM24010

GM24010 LCL from B-Lymphocyte

Description:

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
ORNITHINE CARBAMOYLTRANSFERASE; OTC
DISORDERS OF THE UREA CYCLE

Affected:

Unknown

Sex:

Female

Age:

22 MO (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

Ethnicity

Greek/Portuguese

Country of Origin

USA

Family Member

Family History

Relation to Proband

daughter

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Asymptomatic; known carrier of a 666 base pair deletion involving exon 2 of the OTCase gene; male affected sibling passed away (not in repository); subject is the child of asymptomatic carrier GM24011.

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

EX2 DEL

Phenotypic Data

Remarks

External Links

Gene Cards

OTC

Gene Ontology

GO:0000050 urea cycle

GO:0004585 ornithine carbamoyltransferase activity

GO:0005759 mitochondrial matrix

GO:0006520 amino acid metabolism

GO:0006526 arginine biosynthesis

GO:0009348 ornithine carbamoyltransferase complex

GO:0016597 amino acid binding

GO:0016740 transferase activity

NCBI Gene

Gene ID:5009

NCBI GTR

300461 ORNITHINE CARBAMOYLTRANSFERASE; OTC

311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

OMIM

300461 ORNITHINE CARBAMOYLTRANSFERASE; OTC

311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Omim Description

OCT DEFICIENCY; OCTDORNITHINE CARBAMOYLTRANSFERASE, INCLUDED; OTC, INCLUDED

ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC

VALPROATE SENSITIVITY, INCLUDED

Culture Protocols

Split Ratio

1:2

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