Abstract
We report the generation of three isogenic iPSC clones (UNIBSi007-A, UNIBSi007-B, and UNIBSi007-C) obtained from fibroblasts of a patient with Aicardi Goutières Syndrome (AGS) carrying a homozygous mutation in RNaseH2B. Cells were transduced using a Sendai virus based system, delivering the human OCT4, SOX2, c-MYC and KLF4 transcription factors. The resulting transgene-free iPSC lines retained the disease-causing DNA mutation, showed normal karyotype, expressed pluripotent markers and could differentiate in vitro toward cells of the three embryonic germ layers.
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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Autoimmune Diseases of the Nervous System / genetics*
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Autoimmune Diseases of the Nervous System / pathology*
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Base Sequence
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Cell Culture Techniques / methods*
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Cell Line / pathology*
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Child
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Female
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Fibroblasts / pathology*
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Humans
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Induced Pluripotent Stem Cells / pathology*
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Kruppel-Like Factor 4
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Mutation / genetics*
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Nervous System Malformations / genetics*
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Nervous System Malformations / pathology*
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Reproducibility of Results
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Ribonuclease H / genetics*
Substances
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KLF4 protein, human
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Kruppel-Like Factor 4
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ribonuclease HII
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Ribonuclease H
Supplementary concepts
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Aicardi-Goutieres syndrome