1. Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant.
- Author
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Zhang D, Jennings L, Chen SC, Zaw K, Lamey TM, Thompson JA, McLaren TL, Chen FK, and McLenachan S
- Subjects
- Humans, Cell Line, Cell Differentiation, Male, Mutation, Induced Pluripotent Stem Cells metabolism, Otx Transcription Factors genetics, Otx Transcription Factors metabolism, Kruppel-Like Factor 4, Retinal Dystrophies genetics, Retinal Dystrophies pathology
- Abstract
The human induced pluripotent stem cell (iPSC) line LEIi019-A was generated from a patient with early-onset pattern dystrophy caused by a heterozygous mutation NM_001270525.1:c.259G>A (p.Glu87Lys) in OTX2. Patient-derived dermal fibroblasts were reprogrammed using episomal plasmids containing reprogramming factors OCT4, SOX2, KLF4, MYCL, LIN28, TP53 shRNA and miR-302/367. The iPSC line expressed pluripotency markers, displayed a normal 46,XY karyotype and demonstrated the ability to differentiate into the three primary germ layers, retinal organoids and retinal pigment epithelial cells., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)
- Published
- 2024
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