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

Stem Cell Res. 2024 Sep:79:103479. doi: 10.1016/j.scr.2024.103479. Epub 2024 Jun 19.

Abstract

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 (c.191T > C and c.184C > T) and isogenic lines in which the mutations were corrected by Cas9-mediated homology directed repair.

MeSH terms

  • Anemia, Diamond-Blackfan* / genetics
  • Cell Line
  • Female
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Male
  • Mutation*
  • Ribosomal Proteins* / genetics

Substances

  • ribosomal protein S19
  • Ribosomal Proteins