U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GM23431 female affected OTC sample

Identifiers
BioSample: SAMN00806795; Coriell: GM23431
Organism
Homo sapiens (human)
cellular organisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
Attributes
cell lineGM23431
sexFemale
cell typeB-Lymphocyte
raceMore than one race
ethnicityCAUCASIAN/ASIAN
age21 YR
GeneOTC
affected_byOTC
MutationIVS6+1delG
collectionNIGMS Human Genetic Cell Repository
Tags
Ornithine transcarbamylase deficiency, hyperammonemia due to
Ornithine carbamoyltransferase
OTC
Description

Clinically affected;onset of symptoms at age 18 years;elevated ammonia and orotic acid in blood;communication disorder;learning disabilities;mental retardation with developmental delay;mood disorder;past hyperammonemic events;neurological evaluation at age 4 showed dystonia and tone changes;on citrulline arginine supplement;benzoate and sodium phenylbutyrate;protein restriction;donor subject is heterozygous for a 1 bp deletion in intron 6 of the OTC gene (IVS6+1delG)

Submission
Coriell; 2012-03-05
Accession:
SAMN00806795
ID:
806795

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center