Generation of a human induced pluripotent stem cell panel from a family with a heterozygous RPS19 mutation including healthy wild-type, silent carrier and Diamond-Blackfan anemia individuals.

Abstract

Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome characterized by defective erythropoiesis and increased risk of congenital malformations and cancer. Progress in understanding DBA pathophysiology has been hindered by the lack of physiologically relevant disease models, limited public funding, and low commercial interest. Here, we generated four induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) obtained from members of a family carrying a heterozygous c.184C > T RPS19 mutation (p.Arg62Trp) exhibiting variable clinical manifestations of DBA. This well-characterized iPSC resource facilitates disease modelling and therapeutic development and is available to both academic and commercial researchers.