• Mutation; HGNC; 6990; MECP2; Simple; p.Val247Terfs (c.739delG) (p.Met246_Val247insTer) (p.Met258_Val259insTer, c.775delG); ClinVar=VCV000143674; Zygosity=Heterozygous (PubMed=11738860).
  

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=11738860; DOI=10.1016/S0387-7604(01)00339-4
Lee S.S.J., Wan M., Francke U.
Spectrum of MECP2 mutations in Rett syndrome.
Brain Dev. 23:S138-S143(2001)

PubMed=12418965; DOI=10.1186/1471-2350-3-12
Traynor J., Agarwal P., Lazzeroni L., Francke U.
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations.
BMC Med. Genet. 3:12.1-12.15(2002)

PubMed=21966470; DOI=10.1371/journal.pone.0025255
Ananiev G.E., Williams E.C., Li H.-D., Chang Q.
Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model.
PLoS ONE 6:E25255-E25255(2011)

PubMed=29742391; DOI=10.1016/j.stemcr.2018.04.001
Ohashi M., Korsakova E., Allen D., Lee P., Fu K., Vargas B.S., Cinkornpumin J., Salas C., Park J.C., Germanguz I., Langerman J., Chronis C., Kuoy E., Tran S., Xiao X.-S., Pellegrini M., Plath K., Lowry W.E.
Loss of MECP2 leads to activation of P53 and neuronal senescence.
Stem Cell Reports 10:1453-1463(2018)