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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.
Masneri S, Ferraro RM, Lanzi G, Piovani G, Mori L, Barisani C, Moratto D, Plebani A, Badolato R, Soresina A, Giliani S. Masneri S, et al. Among authors: barisani c. Stem Cell Res. 2019 Dec;41:101596. doi: 10.1016/j.scr.2019.101596. Epub 2019 Oct 18. Stem Cell Res. 2019. PMID: 31669783 Free article.
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.
Masneri S, Lanzi G, Ferraro RM, Barisani C, Piovani G, Savio G, Cattalini M, Galli J, Cereda C, Muzi-Falconi M, Orcesi S, Fazzi E, Giliani S. Masneri S, et al. Among authors: barisani c. Stem Cell Res. 2019 Dec;41:101623. doi: 10.1016/j.scr.2019.101623. Epub 2019 Oct 22. Stem Cell Res. 2019. PMID: 31698194 Free article.
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.
Saettini F, Fazio G, Moratto D, Galbiati M, Zucchini N, Ippolito D, Dinelli ME, Imberti L, Mauri M, Melzi ML, Bonanomi S, Gerussi A, Pinelli M, Barisani C, Bugarin C, Chiarini M, Giacomelli M, Piazza R, Cazzaniga G, Invernizzi P, Giliani SC, Badolato R, Biondi A. Saettini F, et al. Among authors: barisani c. Front Immunol. 2021 Apr 16;12:673487. doi: 10.3389/fimmu.2021.673487. eCollection 2021. Front Immunol. 2021. PMID: 33936120 Free PMC article.