Article
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.
Stem cell research - 1 Sept 2026
Clark Chantal C, Zhang Huan, Slijkerman Teun, van der Stel Marien, von Lindern Marieke, Varga Eszter, van den Akker Emile, Bartels Marije
Abstract excerpt
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....
Read the complete abstract on PubMedTopics
- Humans
- Anemia, Diamond-Blackfan
- Ribosomal Proteins
- Induced Pluripotent Stem Cells
- Cell Line