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

Summary

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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Ferraro RM, Lanzi G, Masneri S, 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 Sep 14;41:101580
PubMed 31644995
DOI 10.1016/j.scr.2019.101580

Research Projects

Cell Lines