GM23891
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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Karyotypic analysis 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 |
; OTC DEFICIENCY |
| Identified Mutation |
c.759delA; Exon: 8; codon: 253; nucleotide change: c.759delA; Amino acid or other change; frameshift: restriction site alteration: BbvI, BsePI, Cac8I, FnuDII, Fnu4HI, TseI; disease presentation: neonatal; reference: Yamaguchi et al. [2006]. (http://ureacycle.cnmcresearch.org). |
| Remarks |
Clinically affected; autism spectrum disorder; mental retardation/developmental delay; past hyperammonemic events; visual and hearing impairments; self-abusive behavior; self -injurious behavior; neurological evaluation at age 4 revealed: abnormal movements, metabolic encephalopathy and agitation; biochemical evidence: initial NH3, 2600 µmol/L; pathogenic mutation: exon 8, codon 253 deletion A (c.759delA); treatments include: citrulline arginine supplement, sodium phenylbutrate, protein restriction; and liver transplantation. |
| Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018 |
| PubMed ID: 30326846 |
| Split Ratio |
1:3 |
| 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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