Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutations in either CREBBP (RSTS1) or EP300 (RSTS2) genes. We characterized 3 iPSC lines generated by Sendai from blood of RSTS1 patients with unique non sense c.4435G > T, p.(Gly1479*), c.3474G > A, p.(Trp1158*) and missense c.4627G > T, p.(Asp1543Tyr) CREBBP mutations. All lines displayed iPSC morphology, pluripotency markers, trilineage differentiation potential, stable karyotype and specific mutations. Western-blot using a CREB-Binding Protein N-terminus antibody demonstrated the same amount of full length protein as control in the missense mutation line and reduced amount in lines with stop mutations.
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 / V. Alari, S. Russo, D. Rovina, M. Garzo, M. Crippa, L. Calzari, C. Scalera, D. Concolino, E. Castiglioni, D. Giardino, E. Prosperi, P. Finelli, C. Gervasini, A. Gowran, L. Larizza. - In: STEM CELL RESEARCH. - ISSN 1873-5061. - 40(2019 Oct).
Titolo: | 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 |
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Settore Scientifico Disciplinare: | Settore MED/03 - Genetica Medica |
Data di pubblicazione: | ott-2019 |
Rivista: | |
Tipologia: | Article (author) |
Data ahead of print / Data di stampa: | 28-ago-2019 |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.scr.2019.101553 |
Appare nelle tipologie: | 01 - Articolo su periodico |
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