GM23643
LCL from B-Lymphocyte
Description:
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; 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 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 |
R141Q; OTC DEFICIENCY |
| Identified Mutation |
ARG141GLN |
| Remarks |
Clinically affected; onset of symptoms at age 15 years; past hyperammonemic events; learning disabilities; mental retardation with developmental delays; mood disorder; donor subject is heterozygous for a G>A transition at nucleotide 422 in exon 3 of the OTC gene (c.422G>A) resulting in the substitution of glutamine for arginine at codon 141 [Arg141Gln (R141Q)]; neurological evaluation at age 2 showed abnormal movements; Wechsler IQ = 52; treatments include: citrulline arginine supplement, benzoate; sodium phenylbutyrate; and protein restriction. |
| Split Ratio |
1:5 |
| 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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