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Article

Generation of iPSC lines and isogenic gene-corrected lines from two individuals with RPS19-mutated Diamond-Blackfan anemia syndrome.

Stem cell research - 1 Sept 2024

Osuna Maria Angeles Lillo, Han Lei, Connelly Jon P, Miller-Preutt Shondra, Weiss Mitchell J, Wlodarski Marcin W, Bhoopalan Senthil Velan

Abstract excerpt

Diamond-Blackfan anemia syndrome (DBAS) is an inherited bone marrow failure disorder that typically presents in infancy as hypoplastic anemia and developmental abnormalities in approximately 50% of cases. DBAS is caused by haploinsufficiency in one of 24 ribosomal protein genes, with RPS19 mutations accounting for 25% of cases. We generated iPSC lines from two patients with different heterozygous RPS19 mutations...

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Identifiers

PMID: 38908299
DOI: 10.1016/j.scr.2024.103479

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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