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GM11605 female affected Leber-like optic atrophy sample

Identifiers
BioSample: SAMN00800741; Coriell: GM11605; Coriell: NA11605
Organism
Homo sapiens (human)
cellular organisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
Attributes
cell lineGM11605
sexFemale
cell typeB-Lymphocyte
raceCaucasian
ethnicityFINNISH
age40 YR
DNA-IDNA11605
GeneMTND1
affected_byLeber-like optic atrophy
MutationLHON3460A
collectionNIGMS Human Genetic Cell Repository
Tags
Complex i, subunit nd1
Leber-like optic atrophy
MTND1
Familial optic atrophy type unknown
Description

Peripapillary microangiopathy;G>A base mutation at nucleotide 3460 (3460G>A) in the MTND1 NADH-ubiquinone oxidoreductase subunit 1 (ND1) mtDNA gene;the mutation converts an Ala to a Thr at codon 52 of the gene Ala52Thr (A52T) and abolishes an Aha II restriction site

Submission
Coriell; 2012-03-05
Accession:
SAMN00800741
ID:
800741

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