Cellosaurus logo
expasy logo

Cellosaurus GM17880 (CVCL_4F48)

[Text][XML][JSON]
Cell line name GM17880
Accession CVCL_4F48
Resource Identification Initiative To cite this cell line use: GM17880 (RRID:CVCL_4F48)
Comments Senescence: Senesces at 56 PDL (Coriell=GM17880).
Derived from site: In situ; Oral cavity, tonsil; UBERON=UBERON_0002372.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Thr158Met (c.473C>T) (p.Thr170Met, c.509C>T); ClinVar=VCV000011811; Zygosity=Heterozygous (Coriell=GM17880).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_YL45 (RTT-T158M C3)
Sex of cell Female
Age at sampling 5Y
Category Finite cell line
Publications

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; GM17880
Cell line databases/resources CLO; CLO_0016152
Encyclopedic resources Wikidata; Q54849296
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number15