Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis

Kang Chieh Huang, Mong Lien Wang, Shih Jen Chen, Jean Cheng Kuo, Won Jing Wang, Phan Nguyen Nhi Nguyen, Karl J. Wahlin, Jyh Feng Lu, Audrey A. Tran, Michael Shi, Yueh Chien, Aliaksandr A. Yarmishyn, Ping Hsing Tsai, Tien Chun Yang, Wann Neng Jane, Chia Ching Chang, Chi Hsien Peng, Thorsten M. Schlaeger*, Shih Hwa Chiou

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Chiou, Schlaeger, and colleagues use hiPSC-derived retinal organoids to model X-linked juvenile retinoschisis. They show that patient hiPSC-derived retinal organoids replicate key pathologies observed in patients, including retinal splitting and photoreceptor deficit. The observed abnormalities were normalized in organoids derived from isogenic CRISPR/Cas9 gene-corrected hiPSCs. This validated XLRS in vitro model could be used to test and optimize therapeutic approaches.

Original languageEnglish
Pages (from-to)906-923
Number of pages18
JournalStem Cell Reports
Volume13
Issue number5
DOIs
StatePublished - 12 Nov 2019

Keywords

  • CRISPR/Cas9 gene editing
  • induced pluripotent stem cells
  • retinal degeneration
  • retinal organoid
  • retinogenesis
  • retinoschisin
  • RS1
  • X-linked juvenile retinoschisis

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