GM23840
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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Y
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Relation to Proband
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proband
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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 |
300461.0015; OTC DEFICIENCY |
| Identified Mutation |
PRO225LEU; Hentzen et al. (1991) described a family in which a proband and his maternal uncle and maternal great-uncle died in the neonatal period with hyperammonemia. The mother and maternal grandmother of the proband showed a dramatic increment of urinary orotic acid following protein load, confirming their status as carriers. Using PCR amplification of OTC-specific mRNA derived from a postmortem biopsy of the liver of the proband, Hentzen et al. (1991) found that the MspI site (CCGG) in exon 7 was abolished. They identified a C-to-T transition at codon 225 of the cDNA, which changed proline to leucine in the protein.
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| Remarks |
Subject is asymptomatic; pathogenic mutation identified in the OTC gene: Exon 5, c.220, CCA>CTA (Pro to Leu). |
| 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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