ID   F6C01
AC   CVCL_EQ55
DR   ArrayExpress; E-MEXP-1956
DR   Wikidata; Q54833155
RX   PubMed=20569274;
CC   Characteristics: This cell line only expresses the non-mutated MECP2 allele (PubMed=20569274).
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Leu386Hisfs*5 (c.1157_1197del41) (p.Leu398Hisfs*5, c.1193_1233del41) (c.1156del41); ClinVar=VCV000143369; Zygosity=Heterozygous (PubMed=20569274).
CC   Omics: Transcriptome analysis by microarray.
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_EQ56 ! F6C04
SX   Female
AG   8Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
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RX   PubMed=20569274; DOI=10.1111/j.1582-4934.2010.01107.x; PMCID=PMC3823278;
RA   Nectoux J., Fichou Y., Rosas-Vargas H., Cagnard N., Bahi-Buisson N.,
RA   Nusbaum P., Letourneur F., Chelly J., Bienvenu T.;
RT   "Cell cloning-based transcriptome analysis in Rett patients: relevance
RT   to the pathogenesis of Rett syndrome of new human MeCP2 target
RT   genes.";
RL   J. Cell. Mol. Med. 14:1962-1974(2010).
//