ID   GM17880
AC   CVCL_4F48
DR   CLO; CLO_0016152
DR   Coriell; GM17880
DR   Wikidata; Q54849296
RX   PubMed=21074045;
CC   Senescence: Senesces at 56 PDL (Coriell=GM17880).
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Thr158Met (c.473C>T) (p.Thr170Met, c.509C>T); ClinVar=VCV000011811; Zygosity=Heterozygous (Coriell=GM17880).
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)
SX   Female
AG   5Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 15
//
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).
//