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

S. Masneri; R.M. Ferraro; G. Lanzi; G. Piovani; L. Mori; C. Barisani; D. Moratto; A. Plebani; R. Badolato; A. Soresina; S. Giliani

Stem Cell Research (Dec 2019)

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

S. Masneri,
R.M. Ferraro,
G. Lanzi,
G. Piovani,
L. Mori,
C. Barisani,
D. Moratto,
A. Plebani,
R. Badolato,
A. Soresina,
S. Giliani

Affiliations

S. Masneri: “Angelo Nocivelli” Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Corresponding author.
R.M. Ferraro: “Angelo Nocivelli” Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
G. Lanzi: “Angelo Nocivelli” Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
G. Piovani: Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
L. Mori: Molecular Medicine Laboratory, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
C. Barisani: “Angelo Nocivelli” Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
D. Moratto: “Angelo Nocivelli” Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
A. Plebani: Pediatrics Clinic and “Angelo Nocivelli” Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, ASST Spedali Civili of Brescia, University of Brescia, Brescia, Italy
R. Badolato: Pediatrics Clinic and “Angelo Nocivelli” Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, ASST Spedali Civili of Brescia, University of Brescia, Brescia, Italy
A. Soresina: Unit of Pediatric Immunology, Department of Pediatrics, ASST Spedali Civili of Brescia, University of Brescia, Brescia, Italy
S. Giliani: “Angelo Nocivelli” Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy

Journal volume & issue: Vol. 41

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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