The purpose of this study was to compare the transcriptome of NIPBL patient derived Hematopoietic progenitors and patient-derived megakaryocytes to healthy unaffected individuals;	Methods: HPC transcriptome profiles of three CdLS patient iPSCs harboring mutations in the NIPBL gene  and megakaryocytes generated from patient-iPSCS were generated by deep sequencing, in triplicate, using Illumina HiSeq 2500. The sequence reads that passed quality filters were analyzed at the transcript isoform level with two methods: BurrowsWheeler Aligner (BWA) followed by ANOVA (ANOVA) and TopHat followed by Cufflinks.;	Results: Using an optimized data analysis workflow, we mapped about 15 million sequence reads per sample to the  human genome and identified transcripts in CdLS-HPCs and transcripts in CdLS-MEGs.;	Conclusion: Our data supports dysregulation of megakaroyctye maturation and growth arrest in response to multiple conserved developmental pathways. SOURCE: Jason,Adam,Mills (millsja@mail.med.upenn.edu) -  The University of Pennsylvania

Pluto Bioinformatics

GSE119828: Genome-wide transcriptome analysis of NIPBL hematopoeitic progenitors and megakaryocytes