Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B


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.

Authors Ferraro RM, Masneri S, Lanzi G, Barisani C, Piovani G, Savio G, Cattalini M, Galli J, Cereda C, Muzi-Falconi M, Orcesi S, Fazzi E, Giliani S
Journal Stem cell research
Publication Date 2019 Dec;41:101620
PubMed 31678772
DOI 10.1016/j.scr.2019.101620

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