TY - JOUR
T1 - 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
AU - Alari, Valentina
AU - Russo, Silvia
AU - Rovina, Davide
AU - Garzo, Maria
AU - Crippa, Milena
AU - Calzari, Luciano
AU - Scalera, Claudia
AU - Concolino, Daniela
AU - Castiglioni, Elisa
AU - Giardino, Daniela
AU - Prosperi, Ennio
AU - Finelli, Palma
AU - Gervasini, Cristina
AU - Gowran, Aoife
AU - Larizza, Lidia
PY - 2019/10
Y1 - 2019/10
N2 - 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.
AB - 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.
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U2 - 10.1016/j.scr.2019.101553
DO - 10.1016/j.scr.2019.101553
M3 - Article
C2 - 31491690
AN - SCOPUS:85071553716
VL - 40
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 101553
ER -