ID   iETF-Mecp2-R294X
AC   CVCL_E6BQ
DR   ABM; T0871
RX   PubMed=32469049;
CC   Sequence variation: Mutation; MGI; MGI:99918; Mecp2; Simple_edited; p.Arg294Ter; Zygosity=Hemizygous; Note=By CRISPR/Cas9. In the mouse line (PubMed=32469049).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Ear, skin; UBERON=UBERON_0001459.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
CC   Breed/subspecies: C57BL/6.
OX   NCBI_TaxID=10090; ! Mus musculus (Mouse)
SX   Male
AG   Adult
CA   Transformed cell line
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
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RX   PubMed=32469049; DOI=10.1093/hmg/ddaa102; PMCID=PMC7471501;
RA   Merritt J.K., Collins B.E., Erickson K.R., Dong H.-W., Neul J.L.;
RT   "Pharmacological read-through of R294X Mecp2 in a novel mouse model of
RT   Rett syndrome.";
RL   Hum. Mol. Genet. 29:2461-2470(2020).
//