GM06335

GM06335 Fibroblast

Description:

GYRATE ATROPHY OF CHOROID AND RETINA; GACR

Affected:

Yes

Sex:

Male

Age:

12 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Disorders of the Urea Cycle

Class

Disorders of Amino Acid Metabolism

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Ethnicity

ITALIAN

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Elevated serum & urine ornithine levels; loss of vis acuity; flat ERG; discrete spinocerebel ataxia; norm musc morphology; sim aff sib; parents 2nd cousins; < 5 % of normal ornithine aminotransferase act; unrespon in vitro to Vitamin B6

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.

ornithine aminotransferase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.6.1.13; <5% activity.

Phenotypic Data

Remarks

External Links

dbSNP

dbSNP ID: 10867

Gene Ontology

GO:0004587 ornithine-oxo-acid transaminase activity

GO:0005759 mitochondrial matrix

GO:0006520 amino acid metabolism

GO:0006591 ornithine metabolism

GO:0007601 visual perception

GO:0016740 transferase activity

GO:0030170 pyridoxal phosphate binding

NCBI Gene

Gene ID:4942

NCBI GTR

258870 GYRATE ATROPHY OF CHOROID AND RETINA; GACR

OMIM

258870 GYRATE ATROPHY OF CHOROID AND RETINA; GACR

Omim Description

HYPERORNITHINEMIA WITH GYRATE ATROPHY OF CHOROID AND RETINA; HOGA

OAT DEFICIENCY

ORNITHINE AMINOTRANSFERASE DEFICIENCY

ORNITHINE AMINOTRANSFERASE-LIKE 3; OATL3, INCLUDED

ORNITHINE KETOACID AMINOTRANSFERASE DEFICIENCY; OKT DEFICIENCY

ORNITHINE-DELTA-AMINOTRANSFERASE DEFICIENCYORNITHINE AMINOTRANSFERASE; OAT, INCLUDED

Culture Protocols

Passage Frozen

Split Ratio

1:5

Temperature

37 C

Percent CO2

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Substrate

None specified

Subcultivation Method

trypsin-EDTA

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD