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Article

Generation of iPSC and isogenic gene-corrected lines from a patient with RPS7 (c.277_279delGTC)-mutated Diamond-Blackfan anemia syndrome.

Stem cell research - 1 Mar 2026

Suryaprakash Shruthi, Ju Yan, Papizan James P, Pruett-Miller Shondra M, Wlodarski Marcin W, Weiss Mitchell J, Han Lei, Bhoopalan Senthil Velan

Abstract excerpt

Diamond-Blackfan anemia syndrome (DBAS) is a heterogeneous genetic bone marrow failure disorder characterized by erythroid hypoplasia in young children. Most forms of DBAS are caused by heterozygous loss-of-function mutations in one of the 24 different ribosomal protein genes. We generated an iPSC line from a patient with a heterozygous RPS7 (c.277_279delGTC) mutation, along with a corresponding isogenic cell...

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Identifiers

PMID: 41529448
DOI: 10.1016/j.scr.2026.103908

Genes

RPS7

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

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Generation of iPSC and isogenic gene-corrected lines from a patient with RPS7 (c.277_279delGTC)-mutated Diamond-Blackfan anemia syndrome.PMID 41529448Read ↗

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