GM23730

GM23730 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

19 YR (At Sampling)

Overview

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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

N

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; symptom onset at 13 years of age; past hyperammonemic events;OTC elevated orotate after allopurinol challenge with absence of argininosuccinic acid 20uM/mM creatinine; Hyperammonemia=211 umol/L, elevated orotate and glutamine, trace citrulline; OTC pathogenic mutation: duplication of exon 3 of the OTC gene, no mutations found in OTC gene; treatments include benzoate, citrulline arginine supplement, sodium phenylbutrate, and protein restriction; normal neurological evaluation at age 4.

Characterizations

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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

exon 3 dup

Phenotypic Data

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Remarks

Clinically affected; symptom onset at 13 years of age; past hyperammonemic events;OTC elevated orotate after allopurinol challenge with absence of argininosuccinic acid 20uM/mM creatinine; Hyperammonemia=211 umol/L, elevated orotate and glutamine, trace citrulline; OTC pathogenic mutation: duplication of exon 3 of the OTC gene, no mutations found in OTC gene; treatments include benzoate, citrulline arginine supplement, sodium phenylbutrate, and protein restriction; normal neurological evaluation at age 4.

External Links

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Gene Cards

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

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

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Split Ratio

1:5

Temperature

37 C

Percent CO2

5%

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

International/Commercial/For-profit:

$373.00USD

U.S. Academic/Non-profit/Government:

$216.00USD