Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys

Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys

Human iPSC line, IISHDOi006-A, was obtained from fibroblasts of a patient with Dominant Optic Atrophy (DOA) carrying a heterozygous mutation in the gene ACO2: c.1999G>A; p.Glu667Lys. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using a non-integrative methodology that involv...

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Main Authors: Victoria Cerrada, Marta García-López, Ana Moreno-Izquierdo, Cristina Villaverde, Olga Zurita, Maria Inmaculada Martin-Merida, Joaquín Arenas, Carmen Ayuso, M. Esther Gallardo
Format: Article
Language:English
Published: Elsevier 2019-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119301965
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spelling doaj-388b1e08b1144303abe5630c18f0a82d2020-11-25T00:57:28ZengElsevierStem Cell Research1873-50612019-10-0140Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667LysVictoria Cerrada0Marta García-López1Ana Moreno-Izquierdo2Cristina Villaverde3Olga Zurita4Maria Inmaculada Martin-Merida5Joaquín Arenas6Carmen Ayuso7M. Esther Gallardo8Grupo de investigación traslacional con células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, SpainGrupo de investigación traslacional con células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, SpainServicio de Genética, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, SpainDepartamento de Genética, Instituto de Investigación Sanitaria Hospital Universitario Fundación Jiménez Díaz (IIS-FJD, UAM), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, SpainDepartamento de Genética, Instituto de Investigación Sanitaria Hospital Universitario Fundación Jiménez Díaz (IIS-FJD, UAM), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, SpainDepartamento de Genética, Instituto de Investigación Sanitaria Hospital Universitario Fundación Jiménez Díaz (IIS-FJD, UAM), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, SpainCentro de Investigación Biomédica en Red (CIBERER), Madrid, Spain; Grupo de Enfermedades raras, mitocondriales y neuromusculares, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, SpainDepartamento de Genética, Instituto de Investigación Sanitaria Hospital Universitario Fundación Jiménez Díaz (IIS-FJD, UAM), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, SpainGrupo de investigación traslacional con células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, Spain; Corresponding author at: Grupo de Investigación Traslacional con células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain.Human iPSC line, IISHDOi006-A, was obtained from fibroblasts of a patient with Dominant Optic Atrophy (DOA) carrying a heterozygous mutation in the gene ACO2: c.1999G>A; p.Glu667Lys. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using a non-integrative methodology that involves the use of Sendai virus.http://www.sciencedirect.com/science/article/pii/S1873506119301965
collection DOAJ
language English
format Article
sources DOAJ
author Victoria Cerrada
Marta García-López
Ana Moreno-Izquierdo
Cristina Villaverde
Olga Zurita
Maria Inmaculada Martin-Merida
Joaquín Arenas
Carmen Ayuso
M. Esther Gallardo
spellingShingle Victoria Cerrada
Marta García-López
Ana Moreno-Izquierdo
Cristina Villaverde
Olga Zurita
Maria Inmaculada Martin-Merida
Joaquín Arenas
Carmen Ayuso
M. Esther Gallardo
Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys
Stem Cell Research
author_facet Victoria Cerrada
Marta García-López
Ana Moreno-Izquierdo
Cristina Villaverde
Olga Zurita
Maria Inmaculada Martin-Merida
Joaquín Arenas
Carmen Ayuso
M. Esther Gallardo
author_sort Victoria Cerrada
title Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys
title_short Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys
title_full Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys
title_fullStr Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys
title_full_unstemmed Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys
title_sort derivation of a human doa ipsc line, iishdoi006-a, with a mutation in the aco2 gene: c.1999g>a; p.glu667lys
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2019-10-01
description Human iPSC line, IISHDOi006-A, was obtained from fibroblasts of a patient with Dominant Optic Atrophy (DOA) carrying a heterozygous mutation in the gene ACO2: c.1999G>A; p.Glu667Lys. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using a non-integrative methodology that involves the use of Sendai virus.
url http://www.sciencedirect.com/science/article/pii/S1873506119301965
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