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Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils.

Life science alliance - 1 Apr 2024

Webbers Steven Ds, Aarts Cathelijn Em, Klein Bart, Koops Dané, Geissler Judy, Tool Anton Tj, van Bruggen Robin, van den Akker Emile, Kuijpers Taco W

Abstract excerpt

Hermansky-Pudlak syndrome type 2 (HPS2) is a rare autosomal recessive disorder, caused by mutations in the AP3B1 gene, encoding the β3A subunit of the adapter protein complex 3. This results in mis-sorting of proteins within the cell. A clinical feature of HPS2 is severe neutropenia. Current HPS2 animal models do not recapitulate the human disease. Hence, we used induced pluripotent stem cells (iPSCs) of an HPS2...

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Identifiers

PMID: 38238087
DOI: 10.26508/lsa.202302263
PMCID: PMC10796564

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