Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1


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

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