ID   GM03942
AC   CVCL_CY33
DR   CLO; CLO_0016107
DR   Coriell; GM03942
DR   Wikidata; Q54838337
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 583; APC; Simple; p.Gln541Ter (c.1621C>T); ClinVar=VCV000000806; Zygosity=Heterozygous (Coriell=GM03942).
CC   Donor information: At sampling donor was not affected with familial adenomatous polyposis but at significant risk for disease.
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_CY34 ! GM03943
SX   Female
AG   17Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 30-01-24; 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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//