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Genome-wide transcriptome analysis of NIPBL hematopoeitic progenitors and megakaryocytes

ABSTRACT: 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: Burrows–Wheeler 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE119828 | GEO | 2019/11/01

REPOSITORIES: GEO

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Genome-wide transcriptome analysis of NIPBL iPSC and commited cardiomyoctes

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