GM23388
LCL from B-Lymphocyte
Description:
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
ORNITHINE CARBAMOYLTRANSFERASE; OTC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
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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
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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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
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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 |
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| Gene |
OTC |
| Chromosomal Location |
Xp21.1 |
| Allelic Variant 1 |
300461.0014; OTC DEFICIENCY |
| Identified Mutation |
ARG277TRP; In 2 unrelated males with mild OTC deficiency, Hata et al. (1991) found a single base substitution (C to T) leading to the substitution of tryptophan for arginine at amino acid position 277. In each family the affected male had an asymptomatic brother hemizygous for the mutation.
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| Remarks |
Clinically affected; onset of symptoms at age 15 years; past hyperammonemic events; psychiatric disorder; testing at age 6 showed IQ = 115; on citrulline arginine supplement and sodium phenylbutyrate; protein restriction; donor subject is hemizygous for a C>T transition at nucleotide 829 in exon 8 of the OTC gene (829C>T) resulting in the substitution of tryptophan for arginine at codon 277 [Arg277Trp (R277W)] |
| Split Ratio |
1:2 |
| 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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