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Cellosaurus GM11272 (CVCL_4F14)

[Text version]
Cell line name GM11272
Accession CVCL_4F14
Resource Identification Initiative To cite this cell line use: GM11272 (RRID:CVCL_4F14)
Comments Population: Jewish.
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.Leu386Argfs*8 (c.1157_1188del32) (p.Leu398Argfs*8, c.1193_1224del32) (1155del32); ClinVar=VCV000143366; Zygosity=Unspecified (PubMed=12418965).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_QX47 (BMSGDDi-GM11272-J8)CVCL_WP03 (GM27437)CVCL_YL26 (RTT-1155del32 C15)
CVCL_YL32 (RTT-1155del32 C18)
Sex of cell Female
Age at sampling 3Y
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)

PubMed=21074045; DOI=10.1016/j.cell.2010.10.016; PMCID=PMC3003590
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)

PubMed=21840716; DOI=10.1016/j.bmcl.2011.07.053; PMCID=PMC3159815
Yu D.-B., Sakurai F., Corey D.R.
Clonal Rett syndrome cell lines to test compounds for activation of wild-type MeCP2 expression.
Bioorg. Med. Chem. Lett. 21:5202-5205(2011)

Cross-references
Cell line collections (Providers) Coriell; GM11272
Cell line databases/resources CLO; CLO_0025981
Encyclopedic resources Wikidata; Q54844952
Gene expression databases GEO; GSM525406
GEO; GSM525407
GEO; GSM525408
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number14