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Cellosaurus GM03950 (CVCL_CY39)

[Text version]
Cell line name GM03950
Accession CVCL_CY39
Resource Identification Initiative To cite this cell line use: GM03950 (RRID:CVCL_CY39)
Comments Population: Caucasian.
Donor information: At sampling donor was not affected with familial adenomatous polyposis but at significant risk for disease.
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.Gln541Ter (c.1621C>T); ClinVar=VCV000000806; Zygosity=Heterozygous (Coriell=GM03950).
Disease Familial adenomatous polyposis (NCIt: C3339)
Familial adenomatous polyposis (ORDO: Orphanet_733)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_CY40 ! GM03951
Sex of cell Female
Age at sampling 12Y
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM03950
Cell line databases/resources CLO; CLO_0016077
Encyclopedic resources Wikidata; Q54838345
Entry history
Entry creation13-Jul-2016
Last entry update30-Jan-2024
Version number15