Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
11031963 | Stem Cell Research | 2018 | 5 Pages |
Abstract
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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Authors
Sara Vallejo, Aarne Fleischer, José MarÃa MartÃn, Almudena Sánchez, Esther Palomino, Daniel Bachiller,