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GM10744 LCL from B-Lymphocyte

Description:

LEBER OPTIC ATROPHY
COMPLEX I, SUBUNIT ND4; MTND4

Affected:

Yes

Sex:

Male

Age:

53 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 Black/African American
Family Member 1
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 45; 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 45; 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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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
 
, Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia 30 November - 3 December 2015 BMC genomics17 Suppl 6:487 2016
PubMed ID: 27454254
 
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 : JMD17 Suppl 6:487 2013
PubMed ID: 23665194
 
Goldschmidt R, Arce PM, Khdour OM, Collin VC, Dey S, Jaruvangsanti J, Fash DM, Hecht SM, Effects of cytoprotective antioxidants on lymphocytes from representative mitochondrial neurodegenerative diseases Bioorganic & medicinal chemistry21:969-78 2012
PubMed ID: 23313093
 
Singh G, Lott MT, Wallace DC, A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy. N Engl J Med320:1300-5 1989
PubMed ID: 2566116
 
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: 11425
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 1:3
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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