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

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

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 re...

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Main Authors: Damià Romero-Moya, Julio Castaño, Carlos Santos-Ocaña, Plácido Navas, Pablo Menendez
Format: Article
Language:English
Published: Elsevier 2017-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506116301222
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spelling doaj-1214be3145774031a63e2341a29ec2c42020-11-24T23:51:02ZengElsevierStem Cell Research1873-50611876-77532017-10-0124C14414710.1016/j.scr.2016.09.007Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 geneDamià Romero-Moya0Julio Castaño1Carlos Santos-Ocaña2Plácido Navas3Pablo Menendez4Josep Carreras Leukemia Research Institute, Department of Biomedicine, School of Medicine, University of Barcelona, Barcelona, SpainJosep Carreras Leukemia Research Institute, Department of Biomedicine, School of Medicine, University of Barcelona, Barcelona, SpainCentro Andaluz de Biología del Desarrollo, Universidad Pablo Olavide, Sevilla, SpainCentro Andaluz de Biología del Desarrollo, Universidad Pablo Olavide, Sevilla, SpainJosep Carreras Leukemia Research Institute, Department of Biomedicine, School of Medicine, University of Barcelona, Barcelona, SpainWe 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 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.http://www.sciencedirect.com/science/article/pii/S1873506116301222
collection DOAJ
language English
format Article
sources DOAJ
author Damià Romero-Moya
Julio Castaño
Carlos Santos-Ocaña
Plácido Navas
Pablo Menendez
spellingShingle Damià Romero-Moya
Julio Castaño
Carlos Santos-Ocaña
Plácido Navas
Pablo Menendez
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
author_facet Damià Romero-Moya
Julio Castaño
Carlos Santos-Ocaña
Plácido Navas
Pablo Menendez
author_sort Damià Romero-Moya
title Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene
title_short Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene
title_full Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene
title_fullStr Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene
title_full_unstemmed Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene
title_sort generation, genome edition and characterization of ipsc lines from a patient with coenzyme q10 deficiency harboring a heterozygous mutation in coq4 gene
publisher Elsevier
series Stem Cell Research
issn 1873-5061
1876-7753
publishDate 2017-10-01
description 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 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.
url http://www.sciencedirect.com/science/article/pii/S1873506116301222
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