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Cellosaurus WIC05i-127-325 (CVCL_EJ73)

[Text version]
Cell line name WIC05i-127-325
Synonyms iPS-R306C-MT
Accession CVCL_EJ73
Resource Identification Initiative To cite this cell line use: WIC05i-127-325 (RRID:CVCL_EJ73)
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=Hemizygous (from parent cell line).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F181 (GM11270)
Sex of cell Female
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

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=21966470; DOI=10.1371/journal.pone.0025255; PMCID=PMC3180386
Ananiev G.E., Williams E.C., Li H.-D., Chang Q.
Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model.
PLoS ONE 6:E25255-E25255(2011)

Cross-references
Cell line collections (Providers) WiCell; wic05i-127-325
Encyclopedic resources Wikidata; Q54994051
Entry history
Entry creation26-Sep-2016
Last entry update29-Jun-2023
Version number11