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

• Published in: Stem cell research Vol. 78; p. 103461
• Main Authors: Zhang, Dan, Jennings, Luke, Chen, Shang-Chih, Zaw, Khine, Lamey, Tina M., Thompson, Jennifer A., McLaren, Terri L., Chen, Fred K., McLenachan, Samuel
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.08.2024; Elsevier
• Subjects: Cell Differentiation; Cell Line; Humans; Induced Pluripotent Stem Cells - metabolism; Kruppel-Like Factor 4; Male; Mutation; Otx Transcription Factors - genetics; Otx Transcription Factors - metabolism; Retinal Dystrophies - genetics; Retinal Dystrophies - pathology
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2024.103461

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.