GM24047
LCL from B-Lymphocyte
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 |
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Biopsy Source
|
Peripheral vein
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|
Cell Type
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B-Lymphocyte
|
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Tissue Type
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Blood
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|
Transformant
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Epstein-Barr Virus
|
|
Sample Source
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LCL from B-Lymphocyte
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Race
|
White
|
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Ethnicity
|
Not Hispanic/Latino
|
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Country of Origin
|
USA
|
|
Family History
|
Y
|
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Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
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Species
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Homo sapiens
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Common Name
|
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 |
frameshift and premature termination; |
| Identified Mutation |
Exon 8, codon 273, deletion of A |
| Remarks |
Asymptomatic; pathogenic mutation: exon 8, codon 273, deletion of A resulting in a frameshift and premature termination; normal neurological evaluation at age 1 years; treatments include protein restriction, citrulline arginine supplement |
| Split Ratio |
1:4 |
| 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 |
- |
|
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