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

Stem Cell Research 2026 Open access

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Authors: Shruthi Suryaprakash, Yan Ju, James P. Papizan, Shondra M. Pruett‐Miller, Marcin W. Włodarski, Mitchell J. Weiss, Lei Han, Senthil Velan Bhoopalan
DOI: 10.1016/j.scr.2026.103908
Cited by: 0
References: 7

Abstract

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 line wherein the mutation was corrected using Cas9-mediated homology-directed repair.

Fields of Study & Subjects

RNA modifications and cancer Metalloenzymes and iron-sulfur proteins Epigenetics and DNA Methylation

Publication details

Journal / source
Stem Cell Research
Volume
91
Pages
103908–103908
Publication date
7 January 2026
Language
EN