Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)

被引：4

作者：

Alari, Valentina ^{[1
]}

Russo, Silvia ^{[1
]}

Rovina, Davide ^{[2
]}

Gowran, Aoife ^{[2
]}

Garzo, Maria ^{[1
]}

Crippa, Milena ^{[1
]}

Mazzanti, Laura ^{[3
]}

Scalera, Claudia ^{[4
]}

Prosperi, Ennio ^{[4
]}

Giardino, Daniela ^{[1
]}

Gervasini, Cristina ^{[5
]}

Finelli, Palma ^{[1
,6
]}

Pompilio, Giulio ^{[2
,7
]}

Larizza, Lidia ^{[1
]}

机构：

[1] IRCCS, Ist Auxol Italiano, Ctr Ric & Tecnol Biomed, Lab Med Cytogenet & Mol Genet, Milan, Italy

[2] IRCCS, Ctr Cardiol Monzino, Unit Vasc Biol & Regenerat Med, Milan, Italy

[3] Univ Bologna, Osped Univ S Orsola Malpighi, Dipartimento Pediat, UO Endocrinol Pediat & Malattie Rare, Bologna, Italy

[4] CNR, Ist Genet Mol, Genome Stabil Grp, Pavia, Italy

[5] Univ Milan, Dipartimento Sci Salute, Genet Med, Milan, Italy

[6] Univ Milan, Dipartimento Biotecnol Med & Med Traslaz, Milan, Italy

[7] Univ Milan, Dept Clin Sci & Community Hlth, Milan, Italy

来源：

STEM CELL RESEARCH | 2018年 / 30卷

关键词：

D O I：

10.1016/j.scr.2018.06.009

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutation in either the CREBBP (RSTS1) or EP300 (RSTS2) genes. We generated an induced pluripotent stem cell line from an RSTS2 patient's blood mononuclear cells by Sendai virus non integrative reprogramming method. The iPSC line (IAIi001RSTS2-65-A) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was stable by karyotyping. Mutation and western blot analyses demonstrated in IAIi001RSTS2-65-A the patient's specific non sense mutation in exon 23 c.3829A > T, p.(Lys 1277*) and showed reduced quantity of wild type p300 protein.

引用

页码：175 / 179

页数：5

共 5 条

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Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A &gt; T, p.(Lys1277*)

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)