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Cellosaurus GM06965 (CVCL_F300)

[Text version]
Cell line name GM06965
Accession CVCL_F300
Resource Identification Initiative To cite this cell line use: GM06965 (RRID:CVCL_F300)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 583; APC; Simple; p.Glu1538Ilefs*5 (c.4612_4613delAG) (P1542X); ClinVar=VCV000000823; Zygosity=Unspecified (Coriell=GM06965).
Disease Familial adenomatous polyposis (NCIt: C3339)
Familial adenomatous polyposis (ORDO: Orphanet_733)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A9Z9 (FAP 6965-1)
Originate from same individual CVCL_F308 ! GM07499
Sex of cell Female
Age at sampling 55Y
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=30024920; DOI=10.1371/journal.pone.0200657
Sommer C.A., Capilla A., Molina-Estevez F.J., Gianotti-Sommer A., Skvir N., Caballero I., Chowdhury S., Mostoslavsky G.
Modeling APC mutagenesis and familial adenomatous polyposis using human iPS cells.
PLoS ONE 13:E0200657-E0200657(2018)

Cross-references
Cell line collections (Providers) Coriell; GM06965
Cell line databases/resources CLO; CLO_0036442
Encyclopedic resources Wikidata; Q54842407
Entry history
Entry creation11-Feb-2013
Last entry update30-Jan-2024
Version number14