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*)
Articolo
Data di Pubblicazione:
2018
Citazione:
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*) / V. Alari, S. Russo, D. Rovina, A. Gowran, M. Garzo, M. Crippa, L. Mazzanti, C. Scalera, E. Prosperi, D. Giardino, C. Gervasini, P. Finelli, G. Pompilio, L. Larizza. - In: STEM CELL RESEARCH. - ISSN 1873-5061. - 30(2018 Jul), pp. 175-179. [10.1016/j.scr.2018.06.009]
Abstract:
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Developmental Biology; Cell Biology
Elenco autori:
V. Alari, S. Russo, D. Rovina, A. Gowran, M. Garzo, M. Crippa, L. Mazzanti, C. Scalera, E. Prosperi, D. Giardino, C. Gervasini, P. Finelli, G. Pompilio, L. Larizza
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