Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1
Summary
Two human iPSC lines were generated from dermal fibroblasts derived from a patient with retinitis pigmentosa caused by CRB1 mutation using episomal plasmids containing OCT4, SOX2, LIN28, KLF4, L-MYC and mp53DD. These clonal iPSC lines carry compound heterozygous mutations in CRB1 (c.2555 T > C and c.3014A > T). Both lines expressed pluripotency markers, displayed a normal karyotype and demonstrated the ability to differentiate into the three primary germ layers, as well as retinal organoids. Copyright © 2021. Published by Elsevier B.V.
| Authors | Moon SY, Zhang D, Chen SC, Lamey TM, Thompson JA, McLaren TL, De Roach JN, Chen FK, McLenachan S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Jul;54:102403 |
| PubMed | 34034222 |
| DOI | 10.1016/j.scr.2021.102403 |