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

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