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Cellosaurus GM11270 (CVCL_F181)

[Text version]
Cell line name GM11270
Accession CVCL_F181
Resource Identification Initiative To cite this cell line use: GM11270 (RRID:CVCL_F181)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6990; MECP2; Simple; p.Arg306Cys (c.916C>T) (p.Arg318Cys, c.952C>T); ClinVar=VCV000011824; Zygosity=Heterozygous (PubMed=11738860).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_F180 (GM23298)CVCL_YL44 (RTT-R306C C1)CVCL_EJ72 (WIC04i-127-33)
CVCL_EJ73 (WIC05i-127-325)
Sex of cell Female
Age at sampling 8Y
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:S138-S143(2001)

PubMed=12418965; DOI=10.1186/1471-2350-3-12
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)

PubMed=21074045; DOI=10.1016/j.cell.2010.10.016
Marchetto M.C.N., Carromeu C., Acab A., Yu D.X., Yeo G.W., Mu Y.-L., Chen G., Gage F.H., Muotri A.R.
A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells.
Cell 143:527-539(2010)

Cross-references
Cell line collections (Providers) Coriell; GM11270
Cell line databases/resources CLO; CLO_0025963
Encyclopedic resources Wikidata; Q54844950
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number17