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

Esmeralda Alonso-Barroso; Sandra Brasil; Álvaro Briso-Montiano; Rosa Navarrete; Celia Pérez-Cerdá; Magdalena Ugarte; Belén Pérez; Lourdes R Desviat; Eva Richard

doi:10.1016/j.scr.2017.07.021

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

Stem Cell Res. 2017 Aug:23:173-177. doi: 10.1016/j.scr.2017.07.021. Epub 2017 Jul 22.

Authors

Esmeralda Alonso-Barroso¹, Sandra Brasil¹, Álvaro Briso-Montiano¹, Rosa Navarrete², Celia Pérez-Cerdá², Magdalena Ugarte², Belén Pérez¹, Lourdes R Desviat¹, Eva Richard³

Affiliations

¹ Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain.
² Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain.
³ Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address: [email protected].

PMID: 28925364
DOI: 10.1016/j.scr.2017.07.021

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.

MeSH terms

Base Sequence
Cell Culture Techniques / methods*
Cell Line
Humans
Induced Pluripotent Stem Cells / pathology*
Kruppel-Like Factor 4
Methylmalonyl-CoA Decarboxylase / genetics*
Propionic Acidemia / pathology*
Reproducibility of Results

Substances

KLF4 protein, human
Kruppel-Like Factor 4
Methylmalonyl-CoA Decarboxylase