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GM10742 LCL from B-Lymphocyte

Description:

LEBER OPTIC ATROPHY
COMPLEX I, SUBUNIT ND4; MTND4

Affected:

Yes

Sex:

Male

Age:

30 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Mitochondrial Genome
Class Ophthalmologic Disorders
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity CANADIAN
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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

Characterizations

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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
 
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.

Phenotypic Data

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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

Publications

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Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023
PubMed ID: 38524212
 
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
 
Dames S, Chou LS, Xiao Y, Wayman T, Stocks J, Singleton M, Eilbeck K, Mao R, The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders The Journal of molecular diagnostics : JMD11:205 2013
PubMed ID: 23665194
 
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

External Links

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dbSNP dbSNP ID: 11424
Gene Cards MT-ND4
MTND1
MTND4
Gene Ontology GO:0005739 mitochondrion
GO:0005747 respiratory chain complex I (sensu Eukarya)
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0016491 oxidoreductase activity
GO:0042773 ATP synthesis coupled electron transport
NCBI Gene Gene ID:3974
Gene ID:4538
NCBI GTR 516003 COMPLEX I, SUBUNIT ND4; MTND4
535000 LEBER OPTIC ATROPHY
OMIM 516003 COMPLEX I, SUBUNIT ND4; MTND4
535000 LEBER OPTIC ATROPHY
Omim Description LEBER HEREDITARY OPTIC NEUROPATHY; LHONLEBER DISEASE AND DYSTONIA, INCLUDED; LDYT, INCLUDED
  LEBER OPTIC ATROPHY

Culture Protocols

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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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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