Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene


Using a Sendai Virus based vector delivering Yamanaka Factors, we generated induced Pluripotent Stem Cells (iPSCs) from peripheral blood mononuclear cells of a patient affected by Ataxia Telangiectasia (AT), caused by a novel homozygous deletion in ATM, spanning exons 5-7. Three clones were fully characterized for pluripotency and capability to differentiate. These clones preserved the causative mutation of parental cells and genomic stability over time (>100 passages). Furthermore, in AT derived iPSCs we confirmed the impaired DNA damage response after ionizing radiation. All these data underline potential usefulness of our clones as in vitro AT disease model. Copyright © 2019 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Masneri S, Ferraro RM, Lanzi G, Piovani G, Mori L, Barisani C, Moratto D, Plebani A, Badolato R, Soresina A, Giliani S
Journal Stem cell research
Publication Date 2019 Dec;41:101596
PubMed 31669783
DOI 10.1016/j.scr.2019.101596

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