Cellosaurus cell line GM11273 (CVCL

Cross-references
Cell line name	GM11273
Accession	CVCL_4F15
Resource Identification Initiative	To cite this cell line use: GM11273 (RRID:CVCL_4F15)
Comments	Population: Jewish. 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.Arg106Trp (c.316C>T) (p.Arg118Trp, c.352C>T); ClinVar=VCV000011814; Zygosity=Unspecified (PubMed=11738860; PubMed=12418965).
Disease	Rett syndrome (NCIt: C75488) Rett syndrome (ORDO: Orphanet_778)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	11Y
Category	Finite cell line
Publications	PubMed=11738860; DOI=10.1016/S0387-7604(01)00339-4 Lee S.S.J., Wan M., Francke U. Spectrum of MECP2 mutations in Rett syndrome. Brain Dev. 23 Suppl. 1:S138-S143(2001) PubMed=12418965; DOI=10.1186/1471-2350-3-12; PMCID=PMC137585 Traynor J., Agarwal P., Lazzeroni L., Francke U. Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. BMC Med. Genet. 3:12.1-12.15(2002)
Cell line collections (Providers)	Coriell; GM11273
Cell line databases/resources	CLO; CLO_0025982
Encyclopedic resources	Wikidata; Q54844953
Entry history
Entry creation	22-Sep-2015
Last entry update	19-Dec-2024
Version number	13