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

doi:10.1016/j.scr.2019.101580

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

Stem Cell Res. 2019 Dec:41:101580. doi: 10.1016/j.scr.2019.101580. Epub 2019 Sep 14.

Authors

Affiliations

¹ "Angelo Nocivelli" Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Italy, ASST Spedali Civili, Brescia, Italy. Electronic address: rosalba.ferraro@unibs.it.
² "Angelo Nocivelli" Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Italy, ASST Spedali Civili, Brescia, Italy.
³ Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Italy.
⁴ Pediatric Clinic, Department of Clinical and Experimental Sciences, University of Brescia, Italy, ASST Spedali Civili, Brescia, Italy.
⁵ Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Brescia, Department of Clinical and Experimental Sciences, University of Brescia, Italy.
⁶ Center of Genomic and Post-Genomic, IRCCS Mondino Foundation, Pavia, Italy.
⁷ Department of Biosciences, University of Milano, Italy.
⁸ Department of Brain and Behavioral Sciences, University of Pavia, Italy, Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.

PMID: 31644995
DOI: 10.1016/j.scr.2019.101580

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Autoimmune Diseases of the Nervous System / genetics*
Autoimmune Diseases of the Nervous System / pathology*
Cell Differentiation*
Cells, Cultured
Child, Preschool
Exodeoxyribonucleases / genetics*
Fibroblasts / metabolism
Fibroblasts / pathology*
Humans
Induced Pluripotent Stem Cells / metabolism
Induced Pluripotent Stem Cells / pathology*
Kruppel-Like Factor 4
Male
Mutation*
Nervous System Malformations / genetics*
Nervous System Malformations / pathology*
Phosphoproteins / genetics*

Substances

KLF4 protein, human
Kruppel-Like Factor 4
Phosphoproteins
Exodeoxyribonucleases
three prime repair exonuclease 1

Supplementary concepts

Aicardi-Goutieres syndrome