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
Summary
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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | 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 |
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| Journal | Stem cell research |
| Publication Date | 2019 Oct;40:101553 |
| PubMed | 31491690 |
| DOI | 10.1016/j.scr.2019.101553 |