ID   GM11270
AC   CVCL_F181
DR   CLO; CLO_0025963
DR   Coriell; GM11270
DR   Wikidata; Q54844950
RX   PubMed=11738860;
RX   PubMed=12418965;
RX   PubMed=21074045;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6990; MECP2; Simple; p.Arg306Cys (c.916C>T) (p.Arg318Cys, c.952C>T); ClinVar=VCV000011824; 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)
SX   Female
AG   8Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 17
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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 Suppl. 1:S138-S143(2001).
//
RX   PubMed=12418965; DOI=10.1186/1471-2350-3-12; PMCID=PMC137585;
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=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).
//