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

Rosalba Monica Ferraro, Stefania Masneri, Gaetana Lanzi, Chiara Barisani, Giovanna Piovani, Giulia Savio, Marco Cattalini, Jessica Galli, Cristina Cereda, Marco Muzi-Falconi, Simona Orcesi, Elisa Fazzi, Silvia Giliani

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)101620
JournalStem Cell Research
Volume41
Early online dateOct 22 2019
DOIs
Publication statusPublished - 2019

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