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Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.
Alari V, Russo S, Rovina D, Garzo M, Crippa M, Calzari L, Scalera C, Concolino D, Castiglioni E, Giardino D, Prosperi E, Finelli P, Gervasini C, Gowran A, Larizza L. Alari V, et al. Among authors: prosperi e. Stem Cell Res. 2019 Oct;40:101553. doi: 10.1016/j.scr.2019.101553. Epub 2019 Aug 28. Stem Cell Res. 2019. PMID: 31491690 Free article.
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).
Alari V, Russo S, Rovina D, Gowran A, Garzo M, Crippa M, Mazzanti L, Scalera C, Prosperi E, Giardino D, Gervasini C, Finelli P, Pompilio G, Larizza L. Alari V, et al. Among authors: prosperi e. Stem Cell Res. 2018 Jul;30:175-179. doi: 10.1016/j.scr.2018.06.009. Epub 2018 Jun 18. Stem Cell Res. 2018. PMID: 29944992 Free article.
A damaged DNA binding protein 2 mutation disrupting interaction with proliferating-cell nuclear antigen affects DNA repair and confers proliferation advantage.
Perucca P, Mocchi R, Guardamagna I, Bassi E, Sommatis S, Nardo T, Prosperi E, Stivala LA, Cazzalini O. Perucca P, et al. Among authors: prosperi e. Biochim Biophys Acta Mol Cell Res. 2018 Jun;1865(6):898-907. doi: 10.1016/j.bbamcr.2018.03.012. Epub 2018 Mar 28. Biochim Biophys Acta Mol Cell Res. 2018. PMID: 29604309 Free article.
153 results