GM10742
LCL from B-Lymphocyte
Description:
LEBER OPTIC ATROPHY
COMPLEX I, SUBUNIT ND4; MTND4
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Mitochondrial Genome |
| Class |
Ophthalmologic Disorders |
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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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CANADIAN
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
MTND4 |
| Chromosomal Location |
NA |
| Allelic Variant 1 |
516003.0001; LEBER OPTIC ATROPHY |
| Identified Mutation |
MTND4*LHON11778A; The allele changes the highly conserved arginine at amino acid 340 to a histidine (R340H). This allele accounts for 50% of LHON cases among Caucasians and over 90% of the cases in Asians. |
| Remarks |
Optic atrophy; bilateral central scotoma; sudden onset of blindness at age 24; mitochondrial DNA has a guanine to adenine transition at position 11778 (11778G>A) in the NADH dehydrogenase subunit 4 gene (MTND4); positive family history |
| Chin RM, Panavas T, Brown JM, Johnson KK, Patient-derived lymphoblastoid cell lines harboring mitochondrial DNA mutations as tool for small molecule drug discovery BMC research notes11:205 2018 |
| PubMed ID: 29587845 |
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| Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2d, Nikoskelainen EK, Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science242:1427-30 1988 |
| PubMed ID: 3201231 |
| 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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