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Cellosaurus GM11270 (CVCL_F181)

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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; 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
Stephen Sung Jae Lee, Mi-Mi Wan, Uta Francke;
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
Jeff Traynor, Priyanka Agarwal, Laura Lazzeroni, Uta Francke;
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
Maria Carolina N. Marchetto, Cassiano Carromeu, Allan Acab, Diana X. Yu, Gene W. Yeo, Yang-Ling Mu, Gong Chen, Fred Harrison Gage, Alysson Renato Muotri;
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 update19-Dec-2024
Version number18