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Cellosaurus F6C04 (CVCL_EQ56)

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Cell line name F6C04
Accession CVCL_EQ56
Resource Identification Initiative To cite this cell line use: F6C04 (RRID:CVCL_EQ56)
Comments Characteristics: This cell line only expresses the mutated MECP2 allele (PubMed=20569274).
Omics: Transcriptomics; 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.Leu386Hisfs*5 (c.1157_1197del41) (p.Leu398Hisfs*5, c.1193_1233del41) (c.1156del41); ClinVar=VCV000143369; 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_EQ55 ! F6C01
Sex of cell Female
Age at sampling 8Y
Category Finite cell line
Publications

PubMed=20569274; DOI=10.1111/j.1582-4934.2010.01107.x; PMCID=PMC3823278
Juliette Nectoux, Yann Fichou, Haydee Rosas-Vargas, Nicolas Cagnard, Nadia Bahi-Buisson, Patrick Nusbaum, Franck Letourneur, Jamel Chelly, Thierry Bienvenu;
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; Q54833157
Gene expression databases ArrayExpress; E-MEXP-1956
Entry history
Entry creation26-Sep-2016
Last entry update10-Apr-2025
Version number13