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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Bibliographic Details
Published in:Stem cell research 2024-08, Vol.78, p.103461, Article 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: Article
Language:English
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
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Summary: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.
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103461