Establishment of CSUASOi001-A, a non-integrated induced pluripotent stem cell line from urine-derived cells of a Chinese patient carrying RS1 gene mutation.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101466
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… read more here.
Keywords: cell line; stem cell; pluripotent stem; rs1 gene ... See more keywords
Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked Retinoschisis.
Sign Up to like & getrecommendations! Published in 2022 at "Klinische Monatsblatter fur Augenheilkunde"
DOI: 10.1055/a-1901-1011
Abstract: X-linked retinoschisis (XLRS) is a rare vitreoretinal dystrophy caused by molecular genetic changes in the RS1 gene. It usually manifests itself at a young age with symmetrical splitting within different layers of the retina and… read more here.
Keywords: mutation; changes oct; rs1 gene; retinoschisis ... See more keywords
Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.
Sign Up to like & getrecommendations! Published in 2017 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2016.0257
Abstract: AIMS X-linked juvenile retinoschisis (XLRS) is a severe ocular disorder that can evolve to blindness. More than 200 different disease-causing mutations have been reported in the RS1 gene and approximately 10% of these are deletions.… read more here.
Keywords: family; linked juvenile; rs1 gene; gene ... See more keywords