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

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

PubMed=11738860; DOI=10.1016/S0387-7604(01)00339-4
Stephen Sung Jae Lee, Mimi Wan, Uta Francke;
Spectrum of MECP2 mutations in Rett syndrome.
Brain Dev. 23 Suppl. 1:S138-S143(2001)

PubMed=12418965; DOI=10.1186/1471-2350-3-12; PMCID=PMC137585
Jeff Traynor, Priyanka Agarwal, Laura Lazzeroni, Uta Francke;
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; PMCID=PMC3180386
Gene E. Ananiev, Emily Cunningham Williams, Hong-Da Li, Qiang Chang;
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:e25255.1-e25255.10(2011)

PubMed=29742391; DOI=10.1016/j.stemcr.2018.04.001; PMCID=PMC5995366
Minori Ohashi, Elena Korsakova, Denise Allen, Peiyee Lee, Kai Fu, Benni S. Vargas, Jessica Cinkornpumin, Carlos Salas, Jenny C. Park, Igal Germanguz, Justin Langerman ...Show all 18 authors... , Contantinos Chronis, Edward Kuoy, Stephen Tran, Xin-Shu Xiao, Matteo Pellegrini, Kathrin Plath, William E. Lowry; Show fewer authors
Loss of MECP2 leads to activation of p53 and neuronal senescence.
Stem Cell Reports 10:1453-1463(2018)