ID   GM03315
AC   CVCL_L949
SY   GM03315A; GM3315A
DR   CLO; CLO_0016753
DR   BioSample; SAMN00808344
DR   Coriell; GM03315
DR   Wikidata; Q54837997
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; 583; APC; Simple; p.Gln541Ter (c.1621C>T); ClinVar=VCV000000806; Zygosity=Heterozygous (Coriell=GM03315).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3339; Familial adenomatous polyposis
DI   ORDO; Orphanet_733; Familial adenomatous polyposis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_L948 ! GM03314
SX   Female
AG   48Y
CA   Transformed cell line
DT   Created: 06-05-13; Last updated: 30-01-24; Version: 19
//
RX   CelloPub=CLPUB00387;
RA   Coriell L.L., Greene A.E., Mulivor R.A.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 7th edition. October 1980.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980).
//
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).
//