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Article

Generation of a patient-derived iPSC line from a clinically diagnosed MELAS case carrying the mtDNA m.3243A > G variant.

Stem cell research - 1 Sept 2026

Sharma Gautam, Srivastava Abhay, Rockman-Greenberg Cheryl, Dhingra Sanjiv

Abstract excerpt

MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes) represents a multisystemic mitochondrial disease mainly triggered by heteroplasmic m.3243A > G mutation in mtDNA MT-TL1, the gene for tRNA^Leu(UUR). Here we report the successful reprogramming of peripheral blood mononuclear cells (PBMCs) from a female MELAS patient into induced pluripotent stem cells (iPSCs). This patient-specific...

Read the complete abstract on PubMed

Topics

Humans
MELAS Syndrome
Female
DNA, Mitochondrial
Induced Pluripotent Stem Cells
Cell Line

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Leukocytes, Mononuclear

RNA, Transfer, Leu

Mutation

Source

Identifiers

PMID: 42320428
DOI: 10.1016/j.scr.2026.104038

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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