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Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene

Author
Alonso-Barroso, Esmeralda; Brasil, Sandra; Briso-Montiano, Álvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena; Pérez, Belén; Ruiz Desviat, Lourdesuntranslated; Richard Rodríguez, Eva Maríauntranslated
Entity
UAM. Departamento de Biología Molecular; Centro de Biología Molecular Severo Ochoa (CBM)
Publisher
Elsevier B. V.
Date
2017-08-01
Citation
Stem Cell Research 23 (2017): 173–177
ISSN
1873-5061 (print); 1876-7753 (online)
DOI
10.1016/j.scr.2017.07.021
Funded by
This work was supported by Spanish Ministry of Economy and Competitiveness and European Regional Development Fund (grant numbers SAF2013-43005-R and SAF2016-76004-R). The authors thank INDEPF (Instituto de investigación y desarrollo social de enfermedades poco frecuentes), and E.Mansilla for her excellent assistance in the karyotype analysis (Instituto de Genética Médica y Molecular del Hospital Universitario de La Paz, Madrid, Spain). Centro de Biología Molecular Severo Ochoa receives an institutional grant from Fundación Ramón Areces (grant number CNXVII)
Project
Gobierno de España. SAF2013-43005-R; Gobierno de España. SAF2016-76004-R
Editor's Version
http://dx.doi.org/10.1016/j.scr.2017.07.021
Subjects
Human iPSC; Propionic acidemia; PCCA gene; Reprogramming factors; Sendai virus; Biología y Biomedicina / Biología
URI
http://hdl.handle.net/10486/680564
Rights
© 2017 The Authors

Licencia de Creative Commons
Esta obra está bajo una licencia de Creative Commons Reconocimiento-NoComercial-SinObraDerivada 4.0 Internacional.

Abstract

Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430 −−?_1643+?del; p.(Gly477Glufs*9). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability
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Google™ Scholar:Alonso-Barroso, Esmeralda - Brasil, Sandra - Briso-Montiano, Álvaro - Navarrete, Rosa - Pérez-Cerdá, Celia - Ugarte, Magdalena - Pérez, Belén - Ruiz Desviat, Lourdes - Richard Rodríguez, Eva María

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