Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation.

• Tác giả: Yong-Min Choi, Kyung-Sook Chung, Jeong Hun Kim, Sang-Yun Kim, Seung-Hyun Kim, Ok-Seon Kwon, Yunho Park, Hyun Beom Song
• Ngôn ngữ: eng
• Ký hiệu phân loại: 020.601 International organizations
• Thông tin xuất bản: England : Stem cell research , 2025
• Bộ sưu tập: NCBI
• ID: 217952

Tóm tắt

 X-linked retinoschisis (XLRS) is an inherited retinal disease caused by mutation in RS1 gene. Due to limited cell sources available for studying retinal disease, patient-derived induced pluripotent stem cells (iPSCs) offer an essential resource for developing XLRS disease models. In this study, we generated iPSC lines from three patients diagnosed with XLRS, each carrying distinct pathogenic RS1 variant (c.421C >
  T, c.130_140del and c.214G >
  A). These iPSC lines demonstrated pluripotency, in vitro differentiation potential, and a normal karyotype, making them valuable resource for investigating XLRS pathogenesis and for advancing therapeutic development.