Abstract
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.
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Aconitate Hydratase / genetics*
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Aconitate Hydratase / metabolism
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Cell Differentiation
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Cell Line / cytology
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Cell Line / metabolism*
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Cellular Reprogramming
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Fibroblasts / cytology
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Fibroblasts / metabolism
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Humans
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Induced Pluripotent Stem Cells / cytology
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Induced Pluripotent Stem Cells / metabolism*
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Kruppel-Like Factor 4
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Male
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Mutation, Missense
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Optic Atrophy, Autosomal Dominant / genetics*
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Optic Atrophy, Autosomal Dominant / metabolism
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Optic Atrophy, Autosomal Dominant / physiopathology
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Point Mutation
Substances
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KLF4 protein, human
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Kruppel-Like Factor 4
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ACO2 protein, human
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Aconitate Hydratase