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

Wereport the generation, CRISPR/Cas9-edition and characterization of induced pluripotent stem cell (iPSC) lines froma patient with coenzyme Q(10) deficiency harboring the heterozygous mutation c.483G > C inthe 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-associatedmarkers/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. (C) 2016 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license.