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

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 rep...

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Những tác giả chính: Dan Zhang, Luke Jennings, Shang-Chih Chen, Khine Zaw, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Fred K. Chen, Samuel McLenachan
Định dạng: Bài viết
Ngôn ngữ:English
Được phát hành: Elsevier 2024-08-01
Loạt:Stem Cell Research
Truy cập trực tuyến:http://www.sciencedirect.com/science/article/pii/S1873506124001594
Miêu tả
Tóm tắt: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.
số ISSN:1873-5061