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

Valentina Alari; Silvia Russo; Davide Rovina; Maria Garzo; Milena Crippa; Luciano Calzari; Claudia Scalera; Daniela Concolino; Elisa Castiglioni; Daniela Giardino; Ennio Prosperi; Palma Finelli; Cristina Gervasini; Aoife Gowran; Lidia Larizza

doi:10.1016/j.scr.2019.101553

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

Valentina Alari, Silvia Russo, Davide Rovina, Maria Garzo, Milena Crippa, Luciano Calzari, Claudia Scalera, Daniela Concolino, Elisa Castiglioni, Daniela Giardino, Ennio Prosperi, Palma Finelli, Cristina Gervasini, Aoife Gowran, Lidia Larizza

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Article number	101553
Journal	Stem Cell Research
Volume	40
DOIs	https://doi.org/10.1016/j.scr.2019.101553
Publication status	Published - Oct 2019

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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Alari, V., Russo, S., Rovina, D., Garzo, M., Crippa, M., Calzari, L., Scalera, C., Concolino, D., Castiglioni, E., Giardino, D., Prosperi, E., Finelli, P., Gervasini, C., Gowran, A., & Larizza, L. (2019). 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. Stem Cell Research, 40, [101553]. https://doi.org/10.1016/j.scr.2019.101553

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. / Alari, Valentina ; Russo, Silvia ; Rovina, Davide; Garzo, Maria; Crippa, Milena ; Calzari, Luciano; Scalera, Claudia; Concolino, Daniela; Castiglioni, Elisa; Giardino, Daniela; Prosperi, Ennio; Finelli, Palma; Gervasini, Cristina; Gowran, Aoife ; Larizza, Lidia.

In: Stem Cell Research, Vol. 40, 101553, 10.2019.

Research output: Contribution to journal › Article › peer-review

Alari, V , Russo, S , Rovina, D, Garzo, M, Crippa, M , Calzari, L, Scalera, C, Concolino, D, Castiglioni, E, Giardino, D, Prosperi, E, Finelli, P, Gervasini, C, Gowran, A & Larizza, L 2019, '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', Stem Cell Research, vol. 40, 101553. https://doi.org/10.1016/j.scr.2019.101553

Alari V , Russo S , Rovina D, Garzo M, Crippa M , Calzari L et al. 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. Stem Cell Research. 2019 Oct;40. 101553. https://doi.org/10.1016/j.scr.2019.101553

Alari, Valentina ; Russo, Silvia ; Rovina, Davide ; Garzo, Maria ; Crippa, Milena ; Calzari, Luciano ; Scalera, Claudia ; Concolino, Daniela ; Castiglioni, Elisa ; Giardino, Daniela ; Prosperi, Ennio ; Finelli, Palma ; Gervasini, Cristina ; Gowran, Aoife ; Larizza, Lidia. / 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. In: Stem Cell Research. 2019 ; Vol. 40.

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abstract = "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.",

author = "Valentina Alari and Silvia Russo and Davide Rovina and Maria Garzo and Milena Crippa and Luciano Calzari and Claudia Scalera and Daniela Concolino and Elisa Castiglioni and Daniela Giardino and Ennio Prosperi and Palma Finelli and Cristina Gervasini and Aoife Gowran and Lidia Larizza",

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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

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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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