Detalls de la publicació.

Article

Any:	2018
Autor(s):	S. Vallejo, A. Fleischer, J. Martín, A. Sánchez, E. Palomino, D. Bachiller
Títol:	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
Volum:	32
Pàgines:	110-114
D.O.I.:	10.1016/j.scr.2018.09.009
Web:	https://dx.doi.org/10.1016/j.scr.2018.09.009
Resum:	© 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.