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A BAP1 synonymous mutation results in exon skipping, loss of function and worse patient prognosis.

Niersch J, Vega-Rubin-de-Celis S, Bazarna A, Mergener S, Jendrossek V, Siveke JT, Pena-Llopis S
iScience. 2021 Feb 12;24(3):102173. doi: 10.1016/j.isci.2021.102173. eCollection 2021 Mar 19. (Link opens in a new window) PubMed (Link opens in a new window) Article

Plasmids from Article

ID Plasmid Purpose
154020pBABE-hygro-BAP1-HAMammalian Expression of HA-tagged Wild-Type BAP1
154021pBABE-hygro-BAP1-C91S-HAMammalian Expression of HA-tagged p.C91S Mutant BAP1
154022pBABE-hygro-BAP1-G312G-HAMammalian Expression of HA-tagged BAP1 with the Synonymous Mutation p.G312G
154023RG6-BAP1_E7Bichromatic Fluorescent Splicing Reporter Minigene for Wild-Type BAP1 Exon 7
154024RG6-BAP1_E7-D192DBichromatic Fluorescent Splicing Reporter Minigene for Mutant BAP1 Exon 7 c.576C>T, p.D192D (Synonymous Mutation)
154025RG6-BAP1_E11Bichromatic Fluorescent Splicing Reporter Minigene for Wild-Type BAP1 Exon 11
154026RG6-BAP1_E11-G312GBichromatic Fluorescent Splicing Reporter Minigene for Mutant BAP1 Exon 11 c.936T>G, p.G312G (Synonymous Mutation)

Antibodies from Article