| Literature DB >> 31141763 |
Xin Yan1, Yonglong Guo2, Juan Chen3, Zekai Cui1, Jianing Gu4, Yini Wang1, Shengru Mao1, Chengcheng Ding4, Jiansu Chen5, Shibo Tang6.
Abstract
X-linked juvenile retinoschisis (XLRS) is one of the most severely affected genetic causes of irreversible retinal degeneration diseases in young males, especially school-age boys. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese 11-year-old male with clinically diagnosed XLRS. Urine sample was collected with appropriate cooperation, then isolated cells were expanded for subsequent reprogramming procedure using integration-free Sendai virus. The newly derived CSUASOi001-A iPS cell line harboring the c.304C > T mutation in the RS1 gene (p.R102W) provides a useful resource to investigate pathogenic mechanisms in XLRS.Entities:
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Year: 2019 PMID: 31141763 DOI: 10.1016/j.scr.2019.101466
Source DB: PubMed Journal: Stem Cell Res ISSN: 1873-5061 Impact factor: 2.020