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.
journal_name
Stem Cell Resjournal_title
Stem cell researchauthors
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 Ldoi
10.1016/j.scr.2019.101553subject
Has Abstractpub_date
2019-10-01 00:00:00pages
101553eissn
1873-5061issn
1876-7753pii
S1873-5061(19)30183-7journal_volume
40pub_type
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journal_title：Stem cell research
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