ID   GM06965
AC   CVCL_F300
DR   CLO; CLO_0036442
DR   Coriell; GM06965
DR   Wikidata; Q54842407
RX   CelloPub=CLPUB00447;
RX   PubMed=30024920;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:583; APC; Simple; p.Glu1538Ilefs*5 (c.4612_4613delAG) (P1542X); ClinVar=VCV000000823; Zygosity=Unspecified (Coriell=GM06965).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3339; Familial adenomatous polyposis
DI   ORDO; Orphanet_733; Familial adenomatous polyposis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F308 ! GM07499
SX   Female
AG   55Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 15
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=30024920; DOI=10.1371/journal.pone.0200657; PMCID=PMC6053155;
RA   Sommer C.A., Capilla A., Molina-Estevez F.J., Gianotti-Sommer A.,
RA   Skvir N.J., Caballero I., Chowdhury S., Mostoslavsky G.;
RT   "Modeling APC mutagenesis and familial adenomatous polyposis using
RT   human iPS cells.";
RL   PLoS ONE 13:e0200657.1-e0200657.21(2018).
//