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Patient-specific MDS-RS iPSCs define the mis-spliced transcript repertoire and chromatin landscape of SF3B1-mutant HSPCs

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Key Points Genetically matched MDS-RS and normal patient-specific iPSC-HSPCs are used to derive a mutant SF3B1 splicing signature. Integrated transcriptomics and chromatin accessibility nominate TEAD as a putative novel transcriptional… Click to show full abstract

Key Points Genetically matched MDS-RS and normal patient-specific iPSC-HSPCs are used to derive a mutant SF3B1 splicing signature. Integrated transcriptomics and chromatin accessibility nominate TEAD as a putative novel transcriptional regulator of SF3B1K700E cells.

Keywords: patient specific; ipscs define; mds ipscs; hspcs; specific mds; sf3b1

Journal Title: Blood Advances
Year Published: 2022

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