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Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome.

Christensen AH, Pan G, Marvig RL, Rodriguez Gonzalez FG, Vissing CR, Silajdzija E, Frosted R, Girma EG, Gabrielaite M, Jensen HK, Rossing K, Henriksen FL, Sandgaard NCF, Ahlberg G, Ghouse J, Lundegaard PR, Weischenfeldt J, Wadelius C, Bundgaard H
Eur Heart J. 2025 Apr 10:ehaf213. doi: 10.1093/eurheartj/ehaf213. (Link opens in a new window) PubMed (Link opens in a new window) Article

Plasmids from Article

ID Plasmid Purpose
232623lentiGuide-chr20-49345720-gRNA1Lentiviral plasmid expressing gRNA targeting the enhancer region in Chr20:49345720 (hg38) locus with lentiGuide-Hygro-eGFP (Addgene #99375) as backbone.
232624lentiGuide-chr20-49345720-gRNA2Lentiviral plasmid expressing gRNA targeting the enhancer region in Chr20:49345720 (hg38) locus with lentiGuide-Hygro-eGFP (Addgene #99375) as backbone.
232625lentiGuide-chr20-49345720-gRNA3Lentiviral plasmid expressing gRNA targeting the enhancer region in Chr20:49345720 (hg38) locus with lentiGuide-Hygro-eGFP (Addgene #99375) as backbone.
232626pBMN-MEF2ALentiviral plasmid expressing human MEF2A.
232627pBMN-MEF2CLentiviral plasmid expressing mouse MEF2C.
232628pBMN-MEF2DLentiviral plasmid expressing mouse MEF2D.
232629pBMN-SRFLentiviral plasmid expressing human SRF.

Antibodies from Article