从黏多糖贮积症IIIA患者中生成两条诱导多能干细胞系：IMEDEAi004-A和IMEDEAi004-B。
Generation of two induced pluripotent stem cells lines from Mucopolysaccharydosis IIIA patient: IMEDEAi004-A and IMEDEAi004-B.
作者信息
Vallejo Sara, Fleischer Aarne, Martín José María, Sánchez Almudena, Palomino Esther, Bachiller Daniel
机构信息
Consejo Superior de Investigaciones Científicas (CSIC/IMEDEA), Miguel Marqués 21, 07190 Esporles, Spain.
Consejo Superior de Investigaciones Científicas (CSIC/IMEDEA), Miguel Marqués 21, 07190 Esporles, Spain; Karuna Good Cell Technologies SL, C/Cercas Bajas 13 Bajo, 01001 Vitoria-Gasteiz, Alava, Spain.
出版信息
Stem Cell Res. 2018 Oct;32:110-114. doi: 10.1016/j.scr.2018.09.009. Epub 2018 Sep 22.
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.
黏多糖贮积症IIIA型（MPSIIIA）是Sanfilippo综合征最严重的形式。将四个基于OriP/EBNA1的附加体质粒转染到一名MPSIIIA复合杂合子（E447K/R245H）患者的皮肤成纤维细胞中，这些质粒包含：OCT3/4、SOX2、KLF4、L-Myc、LIN28、BCL-xL和shp53。所产生的两条诱导多能干细胞系均携带硫酸酯酶（SGSH）突变，无质粒整合，核型正常，表达多能性相关标志物，并且能够分化为三个胚层。
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