ID   GM07982
AC   CVCL_V341
SY   GM7982
DR   CLO; CLO_0010001
DR   Coriell; GM07982
DR   Wikidata; Q54843026
RX   CelloPub=CLPUB00447;
RX   PubMed=11738860;
RX   PubMed=12418965;
RX   PubMed=21966470;
RX   PubMed=29742391;
CC   Population: Caucasian; Austrian.
CC   Sequence variation: Mutation; HGNC; 6990; MECP2; Simple; p.Val247Terfs (c.739delG) (p.Met246_Val247insTer) (p.Met258_Val259insTer, c.775delG); ClinVar=VCV000143674; Zygosity=Heterozygous (PubMed=11738860).
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_V342 ! GM07983
SX   Female
AG   25Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 17
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=11738860; DOI=10.1016/S0387-7604(01)00339-4;
RA   Lee S.S.J., Wan M., Francke U.;
RT   "Spectrum of MECP2 mutations in Rett syndrome.";
RL   Brain Dev. 23:S138-S143(2001).
//
RX   PubMed=12418965; DOI=10.1186/1471-2350-3-12;
RA   Traynor J., Agarwal P., Lazzeroni L., Francke U.;
RT   "Gene expression patterns vary in clonal cell cultures from Rett
RT   syndrome females with eight different MECP2 mutations.";
RL   BMC Med. Genet. 3:12.1-12.15(2002).
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RX   PubMed=21966470; DOI=10.1371/journal.pone.0025255;
RA   Ananiev G.E., Williams E.C., Li H.-D., Chang Q.;
RT   "Isogenic pairs of wild type and mutant induced pluripotent stem cell
RT   (iPSC) lines from Rett syndrome patients as in vitro disease model.";
RL   PLoS ONE 6:E25255-E25255(2011).
//
RX   PubMed=29742391; DOI=10.1016/j.stemcr.2018.04.001;
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).
//