ID RTTe1-hiPSC #96 AC CVCL_A4QT SY RTTe1 #96 DR SKIP; SKIP001035 DR Wikidata; Q105510826 RX PubMed=25644311; CC From: The Hospital for Sick Children; Toronto; Canada. CC Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Gly16Glufs*22 (c.47_57delGCGAGGAGGAG); ClinVar=VCV000189770; Zygosity=Heterozygous (PubMed=25644311). CC Derived from site: In situ; Skin; UBERON=UBERON_0002097. CC Cell type: Fibroblast of skin; CL=CL_0002620. DI NCIt; C75488; Rett syndrome DI ORDO; Orphanet_778; Rett syndrome OX NCBI_TaxID=9606; ! Homo sapiens (Human) OI CVCL_A4QQ ! RTTe1-hiPSC #27 OI CVCL_A4QR ! RTTe1-hiPSC #39 OI CVCL_A4QS ! RTTe1-hiPSC #48 SX Female AG Age unspecified CA Induced pluripotent stem cell DT Created: 12-01-21; Last updated: 19-12-24; Version: 6 // RX PubMed=25644311; DOI=10.1016/j.nbd.2015.01.001; PMCID=PMC4380613; RA Djuric U., Cheung A.Y.-L., Zhang W.-B., Mok R.S.-F., Lai W., Piekna A., RA Hendry J.A., Ross P.J., Pasceri P., Kim D.S., Salter M.W., Ellis J.; RT "MECP2e1 isoform mutation affects the form and function of neurons RT derived from Rett syndrome patient iPS cells."; RL Neurobiol. Dis. 76:37-45(2015). //