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Cellosaurus GM17567 (CVCL_4F46)

[Text version]
Cell line name GM17567
Accession CVCL_4F46
Resource Identification Initiative To cite this cell line use: GM17567 (RRID:CVCL_4F46)
Comments 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.Ter487Trp (c.1461A>G) (p.Ter499Trp, c.1497A>G); ClinVar=VCV000143490; Zygosity=Unspecified (Coriell=GM17567).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C3GP (iPSC567-24 MUT)CVCL_C3GQ (iPSC567-25 WT)
Sex of cell Female
Age at sampling 5Y
Category Finite cell line
Publications

PubMed=29742391; DOI=10.1016/j.stemcr.2018.04.001; PMCID=PMC5995366
Ohashi M., Korsakova E., Allen D., Lee P., Fu K., Vargas B.S., Cinkornpumin J., Salas C., Park J.C., Germanguz I., Langerman J., Chronis C., Kuoy E., Tran S., Xiao X.-S., Pellegrini M., Plath K., Lowry W.E.
Loss of MECP2 leads to activation of p53 and neuronal senescence.
Stem Cell Reports 10:1453-1463(2018)

Cross-references
Cell line collections (Providers) Coriell; GM17567
Cell line databases/resources CLO; CLO_0013028
Encyclopedic resources Wikidata; Q54848968
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number14