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Cellosaurus F2C03 (CVCL_EQ51)

[Text version]
Cell line name F2C03
Accession CVCL_EQ51
Resource Identification Initiative To cite this cell line use: F2C03 (RRID:CVCL_EQ51)
Comments Characteristics: This cell line only expresses the non-mutated MECP2 allele (PubMed=20569274).
Omics: Transcriptome analysis by microarray.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Arg255Ter (c.763C>T) (p.Arg267Ter, c.799C>T); ClinVar=VCV000011829; Zygosity=Heterozygous (PubMed=20569274).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EQ52 ! F2C14
Sex of cell Female
Age at sampling 9Y
Category Finite cell line
Publications

PubMed=20569274; DOI=10.1111/j.1582-4934.2010.01107.x; PMCID=PMC3823278
Nectoux J., Fichou Y., Rosas-Vargas H., Cagnard N., Bahi-Buisson N., Nusbaum P., Letourneur F., Chelly J., Bienvenu T.
Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes.
J. Cell. Mol. Med. 14:1962-1974(2010)

Cross-references
Encyclopedic resources Wikidata; Q54833110
Gene expression databases ArrayExpress; E-MEXP-1956
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number12