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Cellosaurus FAP 3954-1 (CVCL_A9Z7)

[Text version]
Cell line name FAP 3954-1
Synonyms FAP3954-1; FAP3954
Accession CVCL_A9Z7
Resource Identification Initiative To cite this cell line use: FAP 3954-1 (RRID:CVCL_A9Z7)
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; 583; APC; Simple; p.Gln541Ter (c.1621C>T); ClinVar=VCV000000806; Zygosity=Heterozygous (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_CY43 (GM03954)
Sex of cell Male
Age at sampling 24Y
Category Induced pluripotent stem cell
Web pages https://stemcellbank.bu.edu/Catalog/Item/Details/672
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; Q102113808
Entry history
Entry creation29-Oct-2020
Last entry update30-Jan-2024
Version number8