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Cellosaurus WIC07i-07982-4 (CVCL_EJ75)

[Text version]
Cell line name WIC07i-07982-4
Synonyms iPS-V247X-MT
Accession CVCL_EJ75
Resource Identification Initiative To cite this cell line use: WIC07i-07982-4 (RRID:CVCL_EJ75)
Comments Population: Caucasian; Austrian.
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.Val247Terfs (c.739delG) (p.Met246_Val247insTer) (p.Met258_Val259insTer, c.775delG); ClinVar=VCV000143674; Zygosity=Heterozygous (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_V341 (GM07982)
Sex of cell Female
Age at sampling 25Y
Category Induced pluripotent stem cell
Publications

PubMed=21966470; DOI=10.1371/journal.pone.0025255
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; wic07i-07982-4
Encyclopedic resources Wikidata; Q54994054
Entry history
Entry creation26-Sep-2016
Last entry update29-Jun-2023
Version number11