GM23743
LCL from B-Lymphocyte
Description:
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
OTC |
| Chromosomal Location |
Xp21.1 |
| Allelic Variant 1 |
300461.0008; OTC DEFICIENCY |
| Identified Mutation |
ARG26GLN; In a case of OTC deficiency, Grompe et al. (1989) found a CGG-to-CAG mutation that resulted in substitution of glutamine for arginine-26.
|
| Remarks |
Subject is clinically affected; Mutation in the OTC gene c.77G.A (p.R26Q); hyperammonemia at 2015 umol/L, no detectable orotic acid or citruliine, elevated glutamine; treatment includes benzoate, citrulline arginine supplements, sodium phenylbuterate, and a protein restricted diet; learning disabilities, mental retardation developmental delay, visual/hearing impairment; neuroloical evaluation findings include reflex abnormalities; Bayley IQ, mental age 0.5 years old. |
| 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 |
- |
|
|