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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.

Stem cell research - 1 Aug 2024

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

Abstract excerpt

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...

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Identifiers

PMID: 38852423
DOI: 10.1016/j.scr.2024.103461

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