ID RTT-T158M C3 AC CVCL_YL45 DR Wikidata; Q98129214 RX Patent=US9696297; RX PubMed=21074045; CC Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Thr158Met (c.473C>T) (p.Thr170Met, c.509C>T); ClinVar=VCV000011811; Zygosity=Heterozygous (PubMed=21074045). CC Derived from site: In situ; Oral cavity, tonsil; UBERON=UBERON_0002372. CC Cell type: Fibroblast; CL=CL_0000057. DI NCIt; C75488; Rett syndrome DI ORDO; Orphanet_778; Rett syndrome OX NCBI_TaxID=9606; ! Homo sapiens (Human) HI CVCL_4F48 ! GM17880 SX Female AG 5Y CA Induced pluripotent stem cell DT Created: 12-03-20; Last updated: 19-12-24; Version: 8 // RX Patent=US9696297; RA Marchetto M.C.N., Gage F.H., Muotri A.R.; RT "Method for preparing an X chromosome inactivated female human neural RT cell."; RL Patent number US9696297, 04-Jul-2017. // RX PubMed=21074045; DOI=10.1016/j.cell.2010.10.016; PMCID=PMC3003590; RA Marchetto M.C.N., Carromeu C., Acab A., Yu D.X., Yeo G.W., Mu Y.-L., RA Chen G., Gage F.H., Muotri A.R.; RT "A model for neural development and treatment of Rett syndrome using RT human induced pluripotent stem cells."; RL Cell 143:527-539(2010). //