Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation


The human iPSC line LEIi006-A was generated from dermal fibroblasts from a patient with retinitis pigmentosa using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. The iPSC cells carry compound heterozygous mutations (c.1892A > G and c.2548G > A) in the CRB1 gene. LEIi006-A expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages, as well as retinal organoids. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zhang X, Zhang D, Chen SC, Lamey T, Thompson JA, McLaren T, De Roach JN, Chen FK, McLenachan S
Journal Stem cell research
Publication Date 2018 Aug;31:147-151
PubMed 30092450
DOI 10.1016/j.scr.2018.08.001

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