ID   GM01012
AC   CVCL_L744
SY   GM-1012; GM1012A
DR   CLO; CLO_0029469
DR   BioSample; SAMN00803553
DR   Coriell; GM01012
DR   Wikidata; Q54836599
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=20715179;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (Coriell=GM01012).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 30-01-24; Version: 19
//
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).
//
RX   PubMed=20715179; DOI=10.1002/stem.495;
RA   Somers A., Jean J.-C., Sommer C.A., Omari A., Ford C.C., Mills J.A.,
RA   Ying L., Sommer A.G., Jean J.M., Smith B.W., Lafyatis R.,
RA   Demierre M.-F., Weiss D.J., French D.L., Gadue P., Murphy G.J.,
RA   Mostoslavsky G., Kotton D.N.;
RT   "Generation of transgene-free lung disease-specific human induced
RT   pluripotent stem cells using a single excisable lentiviral stem cell
RT   cassette.";
RL   Stem Cells 28:1728-1740(2010).
//