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*).
Stem cell research - 1 Jul 2018
Alari Valentina, Russo Silvia, Rovina Davide, Gowran Aoife, Garzo Maria, Crippa Milena, Mazzanti Laura, Scalera Claudia, Prosperi Ennio, Giardino Daniela, Gervasini Cristina, Finelli Palma, Pompilio Giulio, Larizza Lidia
Abstract excerpt
Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutation in either the CREBBP (RSTS1) or EP300 (RSTS2) genes. We generated an induced pluripotent stem cell line from an RSTS2 patient's blood mononuclear cells by Sendai virus non integrative reprogramming method. The iPSC line...
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