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
Laboratory of Medical Cytogenetics and Molecular Genetics, Centro di Ricerche e Tecnologie Biomediche -Istituto Auxologico Italiano-IRCCS, Milan, Italy.
Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy.
Stem Cell Res. 2018 Jul;30:175-179. doi: 10.1016/j.scr.2018.06.009. Epub 2018 Jun 18.
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 (IAIi001RSTS2-65-A) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was stable by karyotyping. Mutation and western blot analyses demonstrated in IAIi001RSTS2-65-A the patient's specific non sense mutation in exon 23 c.3829A > T, p.(Lys 1277*) and showed reduced quantity of wild type p300 protein.
鲁宾斯坦-泰比综合征（RSTS）是一种神经发育障碍，其特征为生长发育迟缓、骨骼异常和智力残疾，由CREBBP（RSTS1）或EP300（RSTS2）基因的杂合突变引起。我们通过仙台病毒非整合重编程方法，从一名RSTS2患者的血液单核细胞中生成了诱导多能干细胞系。该诱导多能干细胞系（IAIi001RSTS2-65-A）呈现出诱导多能干细胞的形态，表达多能性标志物，具有三系分化潜能，并且通过核型分析显示是稳定的。突变和蛋白质印迹分析表明，在IAIi001RSTS2-65-A中存在患者外显子23 c.3829A>T，p.（Lys 1277*）的特异性无义突变，并显示野生型p300蛋白的量减少。
