Cellosaurus logo
expasy logo

Cellosaurus GM23298 (CVCL_F180)

[Text version]
Cell line name GM23298
Synonyms GM23298*A; R306C-iPS
Accession CVCL_F180
Resource Identification Initiative To cite this cell line use: GM23298 (RRID:CVCL_F180)
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 (Coriell=GM23298).
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=19404254; DOI=10.1038/nmeth.1325
Hotta A., Cheung A.Y.-L., Farra N., Vijayaragavan K., Seguin C.A., Draper J.S., Pasceri P., Maksakova I.A., Mager D.L., Rossant J., Bhatia M., Ellis J.
Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency.
Nat. Methods 6:370-376(2009)

Cross-references
Cell line collections (Providers) Coriell; GM23298 - Discontinued
Cell line databases/resources SKIP; SKIP000188
SKIP; SKIP000704
SKIP; SKIP004354
Biological sample resources BioSample; SAMN00806719
Encyclopedic resources Wikidata; Q54852977
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number23