Detalles de la publicación.

Artículo

Año:2018
Autor(es):S. Vallejo, A. Fleischer, J. Martín, A. Sánchez, E. Palomino, D. Bachiller
Título:Generation of two induced pluripotent stem cells lines from Mucopolysaccharydosis IIIA patient: IMEDEAi004-A and IMEDEAi004-B
Revista:Stem Cell Research
ISSN:1873-5061
JCR Impact Factor:3.929
Volumen:32
Páginas:110-114
D.O.I.:10.1016/j.scr.2018.09.009
Web:https://dx.doi.org/10.1016/j.scr.2018.09.009
Resumen:© 2018 The Authors Mucoplysaccharydosis IIIA (MPSIIIA) is the most severe form of Sanfilippo syndrome. Skin fibroblasts from a MPSIIIA compound heterozygous (E447K/R245H) patient were nucleofected with four OriP/EBNA1-based episomal plasmids containing: OCT3/4, SOX2, KLF4, L-Myc, LIN28, BCL-xL and shp53. The two iPSCs lines generated carry both sulfamidase enzyme (SGSH) mutations, are free of plasmid integration, have normal karyotype, express pluripotency-associated markers and are able to differentiate into the three germ layers.

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