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Stem Cell Res. 2019 Aug 28;40:101553. doi: 10.1016/j.scr.2019.101553. [Epub ahead of print]

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.

Author information

1
Istituto Auxologico Italiano-IRCCS, Medical Cytogenetics & Human Molecular Genetics, Milan, Italy.
2
Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy.
3
Istituto di Genetica Molecolare del CNR, Genome Stability Group, Pavia, Italy.
4
Pediatrics Unit, Department of Medical and Surgical Science, University "Magna Graecia", Catanzaro, Italy.
5
Dipartimento di Scienze della Salute, Genetica Medica, Università degli Studi di Milano, Milan, Italy.
6
Istituto Auxologico Italiano-IRCCS, Medical Cytogenetics & Human Molecular Genetics, Milan, Italy. Electronic address: l.larizza@auxologico.it.

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.

PMID:
31491690
DOI:
10.1016/j.scr.2019.101553
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