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 Res
; 40: 101553, 2019 10.
Article
em En
| MEDLINE
| ID: mdl-31491690
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.4435Gâ¯>â¯T, p.(Gly1479*), c.3474Gâ¯>â¯A, p.(Trp1158*) and missense c.4627Gâ¯>â¯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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Rubinstein-Taybi
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Linhagem Celular
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Mutação de Sentido Incorreto
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Proteína de Ligação a CREB
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Células-Tronco Pluripotentes Induzidas
Limite:
Adolescent
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article