Stem cell research · 2026
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.
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Hagelkruys Astrid, Stein Elisabeth, Mosca Ellen, Leeb Nicole, Kinzer Manuela, Foong-Sobis Michelle, Gapp Bianca V, Tenorio Emanuel, Aligianni Sofia, Meixner Arabella, Karger Leo, Agu Chukwuma, Volz-Glaser Jennifer, Penninger Josef M
Аннотация
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.