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Cellosaurus FAP 6965-1 (CVCL_A9Z9)

[Text version]
Cell line name FAP 6965-1
Synonyms FAP6965-1; FAP6965
Accession CVCL_A9Z9
Resource Identification Initiative To cite this cell line use: FAP 6965-1 (RRID:CVCL_A9Z9)
Comments From: Boston University School of Medicine; Boston; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:583; APC; Simple; p.Glu1538Ilefs*5 (c.4612_4613delAG) (P1542X); ClinVar=VCV000000823; Zygosity=Unspecified (PubMed=30024920).
Disease Familial adenomatous polyposis (NCIt: C3339)
Familial adenomatous polyposis (ORDO: Orphanet_733)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F300 (GM06965)
Sex of cell Female
Age at sampling 55Y
Category Induced pluripotent stem cell
Web pages https://stemcellbank.bu.edu/Catalog/Item/Details/670
Publications

PubMed=30024920; DOI=10.1371/journal.pone.0200657; PMCID=PMC6053155
Sommer C.A., Capilla A., Molina-Estevez F.J., Gianotti-Sommer A., Skvir N.J., 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
Encyclopedic resources Wikidata; Q102113811
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number8