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Modeling Down Syndrome Myeloid Leukemia by Sequential Introduction of GATA1 and STAG2 Mutations in Induced Pluripotent Stem Cells with Trisomy 21.

Cells - 11 Feb 2022

Barwe Sonali P, Sebastian Aimy, Sidhu Ishnoor, Kolb Edward Anders, Gopalakrishnapillai Anilkumar

Abstract excerpt

Children with Down syndrome (DS) have a high risk for acute myeloid leukemia (DS-ML). Genomic characterization of DS-ML blasts showed the presence of unique mutations in GATA1, an essential hematopoietic transcription factor, leading to the production of a truncated from of GATA1 (GATA1s). GATA1s, together with trisomy 21, is sufficient to develop a pre-leukemic condition called transient abnormal myelopoiesis...

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Identifiers

PMID: 35203280
DOI: 10.3390/cells11040628
PMCID: PMC8870267

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