ID   GM17567
AC   CVCL_4F46
DR   CLO; CLO_0013028
DR   Coriell; GM17567
DR   Wikidata; Q54848968
RX   PubMed=29742391;
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Ter487Trp (c.1461A>G) (p.Ter499Trp, c.1497A>G); ClinVar=VCV000143490; Zygosity=Unspecified (Coriell=GM17567).
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)
SX   Female
AG   5Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 14
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RX   PubMed=29742391; DOI=10.1016/j.stemcr.2018.04.001; PMCID=PMC5995366;
RA   Ohashi M., Korsakova E., Allen D., Lee P., Fu K., Vargas B.S.,
RA   Cinkornpumin J., Salas C., Park J.C., Germanguz I., Langerman J.,
RA   Chronis C., Kuoy E., Tran S., Xiao X.-S., Pellegrini M., Plath K.,
RA   Lowry W.E.;
RT   "Loss of MECP2 leads to activation of p53 and neuronal senescence.";
RL   Stem Cell Reports 10:1453-1463(2018).
//