Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number.

doi:10.1093/hmg/5.2.197

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Article

Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number.

Human molecular genetics - 1 Feb 1996

Bentlage H A, Attardi G

Abstract excerpt

Transmitochondrial cell lines were isolated by fusing mtDNA-less rho degrees 206 cells with enucleated fibroblasts derived from four members of a pedigree carrying in their muscle varying proportions of the mutation at position 3243 in the tRNA(Leu(UUR)) gene associated with the MELAS encephalomy...

Topics

Cell Line
DNA, Mitochondrial
Fibroblasts
Gene Dosage
Genotype
Humans
MELAS Syndrome
Mitochondria
Mutation
Pedigree
Phenotype
RNA, Transfer, Amino Acyl
Transformation, Genetic

Source

Open in PubMed

Identifiers

PMID: 8824875
DOI: 10.1093/hmg/5.2.197

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8824875-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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