Stem Cell Research (Dec 2019)

Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1

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

Journal volume & issue
Vol. 41

Abstract

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Fibroblasts from a patient with Aicardi Goutières Syndrome (AGS) carrying a compound heterozygous mutation in TREX1, were reprogrammed into induced pluripotent stem cells (iPSCs) to establish isogenic clonal stem cell lines: UNIBSi006-A, UNIBSi006-B, and UNIBSi006-C. Cells were transduced using the episomal Sendai viral vectors, containing human OCT4, SOX2, c-MYC and KLF4 transcription factors. The transgene-free iPSC lines showed normal karyotype, expressed pluripotent markers and displayed in vitro differentiation potential toward cells of the three embryonic germ layers.