Generation of iPSC lines and isogenic gene-corrected lines from two individuals with RPS19-mutated Diamond-Blackfan anemia syndrome
oleh: Maria Angeles Lillo Osuna, Lei Han, Jon P. Connelly, Shondra Miller-Preutt, Mitchell J. Weiss, Marcin W. Wlodarski, Senthil Velan Bhoopalan
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2024-09-01 |
Deskripsi
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.