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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Ounap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA
Am J Hum Genet. 2020 Jan 3. pii: S0002-9297(19)30471-9. doi: 10.1016/j.ajhg.2019.12.007. (Link opens in a new window) PubMed (Link opens in a new window) Article

Plasmids from Article

ID Plasmid Purpose
136364pINTO-N3::hTET3Expresses epitope-tagged human TET3 WT in mammalian cells
136365pINTO-N3::hTET3 HxDExpresses epitope-tagged human TET3 catalytically dead (HxD mutation) in mammalian cells
136366pINTO-N3::hTET3 F1072CExpresses epitope-tagged human TET3 F1072C variant in mammalian cells
136367pINTO-N3::hTET3 R752CExpresses epitope-tagged human TET3 R752C variant in mammalian cells
136368pINTO-N3::hTET3 A1076TExpresses epitope-tagged human TET3 A1076C variant in mammalian cells
136369pINTO-N3::hTET3 V1089MExpresses epitope-tagged human TET3 V1089M variant in mammalian cells
136370pINTO-N3::hTET3 V908LExpresses epitope-tagged human TET3 V908L variant in mammalian cells

Antibodies from Article