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Cellosaurus GM23298 (CVCL_F180)

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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
Akitsu Hotta, Aaron Y.-L. Cheung, Natalie Farra, Kausalia Vijayaragavan, Cheryle A. Seguin, Jonathan S. Draper, Peter Pasceri, Irina A. Maksakova, Dixie L. Mager, Janet Rossant, Mickie Bhatia, James Ellis;
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