English   español  
Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/163551
Título

Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene

AutorRomero-Moya, Damià; Castaño, Julio; Santos-Ocaña, Carlos ; Navas, Plácido ; Menendez, Pablo
Fecha de publicación2017
EditorElsevier
CitaciónStem Cell Research 24: 144-147 (2017)
ResumenWe report the generation, CRISPR/Cas9-edition and characterization of induced pluripotent stem cell (iPSC) lines from a patient with coenzyme Q deficiency harboring the heterozygous mutation c.483G > C in the COQ4 gene. iPSCs were generated using non-integrative Sendai Viruses containing the reprogramming factors OCT4, SOX2, KLF4 and C-MYC. The iPSC lines carried the c.483G > C COQ4 mutation, silenced the OKSM expression and were mycoplasma-free. They were bona fide pluripotent cells as characterized by morphology, immunophenotype/gene expression for pluripotent-associated markers/genes, NANOG and OCT4 promoter demethylation, karyotype and teratoma formation. The COQ4 mutation was CRISPR/Cas9 edited resulting in isogenic, diploid and off-target free COQ4-corrected iPSCs.
Versión del editorhttps://doi.org/10.1016/j.scr.2016.09.007
URIhttp://hdl.handle.net/10261/163551
Identificadoresdoi: 10.1016/j.scr.2016.09.007
e-issn: 1876-7753
issn: 1873-5061
Aparece en las colecciones: (CABD) Artículos
Ficheros en este ítem:
Fichero Descripción Tamaño Formato  
generagene.pdf1,01 MBAdobe PDFVista previa
Visualizar/Abrir
Mostrar el registro completo
 

Artículos relacionados:


NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.