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Article

Study of inherited thrombocytopenia resulting from mutations in ETV6 or RUNX1 using a human pluripotent stem cell model.

Stem cell reports - 8 Jun 2021

Borst Sara, Nations Catriana C, Klein Joshua G, Pavani Giulia, Maguire Jean Ann, Camire Rodney M, Drazer Michael W, Godley Lucy A, French Deborah L, Poncz Mortimer, Gadue Paul

Abstract excerpt

Inherited thrombocytopenia results in low platelet counts and increased bleeding. Subsets of these patients have monoallelic germline mutations in ETV6 or RUNX1 and a heightened risk of developing hematologic malignancies. Utilizing CRISPR-Cas9, we compared the in vitro phenotype of hematopoietic progenitor cells and megakaryocytes derived from induced pluripotent stem cell (iPSC) lines harboring mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34019812
DOI: 10.1016/j.stemcr.2021.04.013
PMCID: PMC8190596

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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