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Article

Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene.

Stem cell research - 1 Oct 2017

Romero-Moya Damià, Castaño Julio, Santos-Ocaña Carlos, Navas Plácido, Menendez Pablo

Abstract excerpt

We report the generation, CRISPR/Cas9-edition and characterization of induced pluripotent stem cell (iPSC) lines from a patient with coenzyme Q10 deficiency harboring the heterozygous mutation c.483G>C in the COQ4 gene. iPSCs were generated using non-integrative Sendai Viruses containing the reprogramming factors OCT4, SOX2, KLF4 and C-MYC. The iPSC lines carried the c.483G>C COQ4 mutation, silenced the OKSM...

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Source

Identifiers

PMID: 28465093
DOI: 10.1016/j.scr.2016.09.007

Genes

COQ4
KLF4
MYC
NANOG
SOX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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