Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 175-179 |
| Number of pages | 5 |
| Journal | Stem Cell Research |
| Volume | 30 |
| DOIs | |
| Publication status | Published - Jul 1 2018 |
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ASJC Scopus subject areas
- Developmental Biology
- Cell Biology
Cite this
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*). / Alari, Valentina; Russo, Silvia; Rovina, Davide; Gowran, Aoife; Garzo, Maria; Crippa, Milena; Mazzanti, Laura; Scalera, Claudia; Prosperi, Ennio; Giardino, Daniela; Gervasini, Cristina; Finelli, Palma; Pompilio, Giulio; Larizza, Lidia.
In: Stem Cell Research, Vol. 30, 01.07.2018, p. 175-179.Research output: Contribution to journal › Article
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TY - JOUR
T1 - 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*)
AU - Alari, Valentina
AU - Russo, Silvia
AU - Rovina, Davide
AU - Gowran, Aoife
AU - Garzo, Maria
AU - Crippa, Milena
AU - Mazzanti, Laura
AU - Scalera, Claudia
AU - Prosperi, Ennio
AU - Giardino, Daniela
AU - Gervasini, Cristina
AU - Finelli, Palma
AU - Pompilio, Giulio
AU - Larizza, Lidia
PY - 2018/7/1
Y1 - 2018/7/1
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=85048979530&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2018.06.009
DO - 10.1016/j.scr.2018.06.009
M3 - Article
VL - 30
SP - 175
EP - 179
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
ER -