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.

Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1 / R.M. Ferraro, G. Lanzi, S. Masneri, C. Barisani, G. Piovani, G. Savio, M. Cattalini, J. Galli, C. Cereda, M. Muzi-Falconi, S. Orcesi, E. Fazzi, S. Giliani. - In: STEM CELL RESEARCH. - ISSN 1873-5061. - 41(2019 Dec 01). [10.1016/j.scr.2019.101580]

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

M. Muzi-Falconi;
2019

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.
Settore MED/03 - Genetica Medica
Settore BIO/11 - Biologia Molecolare
Settore BIO/18 - Genetica
1-dic-2019
set-2019
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/676669
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