Generation of two induced pluripotent stem cells lines from Mucopolysaccharydosis IIIA patient: IMEDEAi004-A and IMEDEAi004-B
Summary
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. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Vallejo S, Fleischer A, Martín JM, Sánchez A, Palomino E, Bachiller D |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Oct;32:110-114 |
| PubMed | 30269021 |
| DOI | 10.1016/j.scr.2018.09.009 |