Generation and characterization of human iPSC line SANi013-A from a Diamond-Blackfan anemia syndrome (DBAS) patient carrying a heterozygous RPS26 c.95-98 duplication variant
Summary
Diamond-Blackfan Anemia Syndrome (DBAS) is a rare inherited bone marrow failure syndrome diagnosed in early childhood, marked by hypoplastic anemia, congenital anomalies, and increased cancer risk. Most cases involve loss-of-function mutations in ribosomal protein genes, disrupting ribosome biogenesis. We generated iPSC line SANi013-A from a patient with a de novo heterozygous RPS26 c.95-98 duplication. Proerythroblasts derived from peripheral blood were reprogrammed using a non-integrating Sendai virus method. The iPSC line SANi013-A displayed a normal karyotype, expressed pluripotency markers, and differentiated into all three germ layers. This line offers a valuable model for studying DBAS pathogenesis, especially erythropoietic defects. Copyright © 2026. Published by Elsevier B.V.
| Authors | Clark CC, Zhang H, Slijkerman T, van der Stel M, von Lindern M, Varga E, van den Akker E, Bartels M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Jun 13;95:104030 |
| PubMed | 42308971 |
| DOI | 10.1016/j.scr.2026.104030 |