Description:
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
ORNITHINE CARBAMOYLTRANSFERASE; OTC
DISORDERS OF THE UREA CYCLE
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
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|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Black/African American
|
|
Ethnicity
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Not Hispanic/Latino
|
|
Country of Origin
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USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
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|
Common Name
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Human
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|
Remarks
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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 |
300461.0001; OTC DEFICIENCY |
| Identified Mutation |
OTC, DEL |
| Remarks |
Clinically affected; pathogenic mutation identified: deletion of entire OTC gene; ADHD; learning disabilities and mental retardation/developmental delay; past hyperammonemic events; treatment includes citrulline arginine supplment, protein restriction and sodium phenylbuterate; neurological evaluation at age 7 showed severe speech delay, speech dysfunction; psychological testing at age 10; mental age is 1.2 years. |
| Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018 |
| PubMed ID: 30326846 |
|