Gene expression profiling of neural stem cells derived from iPS cells (iPSc) of Sanfilippo syndrome type B (MPSIIIB) patient versus control

We generated iPSc from skin fibroblasts of two MPSIIIB patients (P1 and P2). MPSIIIB-associated cell defects were prominent in undifferentiated iPSc, in neural stem cells and in their neuronal progeny. We explored alterations of metabolic pathways in MPSIIIB neural cells by performing gene expression profiling of patient versus control neural stem cells. Exon array transcriptome analysis showed 295 transcripts with increased expression level and 1275 transcripts with decreased expression level in patient versus control neural precursors. Total RNA was extracted from proliferating neurosphere cultures derived from two control (C1 and C3) and three patient (P1.1, P1.3, and P2.3) iPSc clones. We considered a minimal fold change of 1.5 fold and a corrected P value lower than 0.05.