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Title

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

AuthorsRomero-Moya, Damià; Castaño, Julio; Santos-Ocaña, Carlos CSIC ORCID CVN ; Navas, Plácido CSIC ORCID; Menendez, Pablo
Issue Date2017
PublisherElsevier
CitationStem Cell Research 24: 144-147 (2017)
AbstractWe report the generation, CRISPR/Cas9-edition and characterization of induced pluripotent stem cell (iPSC) lines from a patient with coenzyme Q 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 expression and were mycoplasma-free. They were bona fide pluripotent cells as characterized by morphology, immunophenotype/gene expression for pluripotent-associated markers/genes, NANOG and OCT4 promoter demethylation, karyotype and teratoma formation. The COQ4 mutation was CRISPR/Cas9 edited resulting in isogenic, diploid and off-target free COQ4-corrected iPSCs.
Publisher version (URL)https://doi.org/10.1016/j.scr.2016.09.007
URIhttp://hdl.handle.net/10261/163551
DOI10.1016/j.scr.2016.09.007
Identifiersdoi: 10.1016/j.scr.2016.09.007
e-issn: 1876-7753
issn: 1873-5061
Appears in Collections:(CABD) Artículos

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