ID   GM00504
AC   CVCL_J106
SY   GM-504
DR   CLO; CLO_0025941
DR   Coriell; GM00504
DR   Wikidata; Q54836273
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Gly542Ter (c.1624G>T); ClinVar=VCV000007115; Zygosity=Heterozygous (Coriell=GM00504).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.His609Arg (c.1826A>G); ClinVar=VCV000053398; Zygosity=Heterozygous (Coriell=GM00504).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   19Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 30-01-24; Version: 17
//
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).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//