Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene
Entity
UAM. Departamento de Biología Molecular; Centro de Biología Molecular Severo Ochoa (CBM)Publisher
Elsevier B. V.Date
2017-08-01Citation
10.1016/j.scr.2017.07.021
Stem Cell Research 23 (2017): 173–177
ISSN
1873-5061 (print); 1876-7753 (online)DOI
10.1016/j.scr.2017.07.021Funded 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-REditor's Version
http://dx.doi.org/10.1016/j.scr.2017.07.021Subjects
Human iPSC; Propionic acidemia; PCCA gene; Reprogramming factors; Sendai virus; Biología y Biomedicina / BiologíaRights
© 2017 The Authors
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
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Brasil, Sandra
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Briso-Montiano, Álvaro
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Navarrete, Rosa
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Pérez-Cerdá, Celia
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Ugarte, Magdalena
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Pérez, Belén
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Ruiz Desviat, Lourdes
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Richard Rodríguez, Eva María
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