Establishment of an induced pluripotent stem cell line (FDEENTi002-A) from a patient with Best’s disease carrying c.888C > A mutation in BEST1 gene
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101459
Abstract: Best’s disease (BD) is an inherited retinal degenerative disease caused by mutations in BEST1 gene. A human induced pluripotent stem cell (iPSC) line has been generated with integration-free Sendai virus method from peripheral blood mononuclear… read more here.
Keywords: stem cell; line; disease; best1 gene ... See more keywords
Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2116649
Abstract: Bestrophinopathies are genetic retinal disorders characterized by variants in the BEST1 gene, formerly named VMD2. They include Best vitelliform macular dystrophy, adult-onset foveomacular vitelliform dystrophy, autosomal recessive bestrophinopathy (ARB), and autosomal dominant vitreoretinochoroidopathy (1). The… read more here.
Keywords: variants best1; best1 gene; associated compound; recessive bestrophinopathy ... See more keywords