Cellosaurus cell line FAP 3948-1 (CVCL

Cross-references
Cell line name	FAP 3948-1
Synonyms	FAP3948-1; FAP3948
Accession	CVCL_A9Z6
Resource Identification Initiative	To cite this cell line use: FAP 3948-1 (RRID:CVCL_A9Z6)
Comments	From: Center for Regenerative 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_L946 (GM03948)
Sex of cell	Female
Age at sampling	30Y
Category	Induced pluripotent stem cell
Web pages	Provider; CReM; 671; https://stemcellbank.bu.edu/Catalog/Item/Details/671
Publications	PubMed=30024920; DOI=10.1371/journal.pone.0200657; PMCID=PMC6053155 Cesar A. Sommer, Amalia Capilla, Francisco Javier Molina-Estevez, Andreia Gianotti-Sommer, Nicholas J. Skvir, Ignacio Caballero, Sanjib Chowdhury, Gustavo Mostoslavsky; Modeling APC mutagenesis and familial adenomatous polyposis using human iPS cells. PLoS ONE 13:e0200657.1-e0200657.21(2018)
Encyclopedic resources	Wikidata; Q102113807
Entry history
Entry creation	29-Oct-2020
Last entry update	10-Apr-2025
Version number	10