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

Dan Zhang, Luke Jennings, Shang Chih Chen, Khine Zaw, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Fred K. Chen, Samuel McLenachan

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

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.

Original languageEnglish
Article number103461
Number of pages5
JournalStem Cell Research
Volume78
Early online date8 Jun 2024
DOIs
Publication statusPublished - Aug 2024

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