Cellosaurus cell line FAP 3954-1 (CVCL

Cross-references
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; 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)
Encyclopedic resources	Wikidata; Q102113808
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	9