ID   GM00713
AC   CVCL_0P84
SY   GM-713; AG00713; AG-713; AG 713; AG0713
DR   CLO; CLO_0028907
DR   Coriell; AG00713
DR   Coriell; GM00713
DR   Wikidata; Q54836409
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7253718;
CC   Sequence variation: Mutation; HGNC; 3690; FGFR3; Simple; p.Arg248Cys (c.742C>T); ClinVar=VCV000016332; Zygosity=Heterozygous (Coriell=GM00713).
CC   Discontinued: Coriell; AG00713; probable.
CC   Derived from site: In situ; Lung; UBERON=UBERON_0002048.
CC   Cell type: Fibroblast of lung; CL=CL_0002553.
DI   NCIt; C85187; Thanatophoric dysplasia
DI   ORDO; Orphanet_2655; Thanatophoric dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_0P82 ! GM00711
OI   CVCL_0P83 ! GM00712
OI   CVCL_0P85 ! GM00714
SX   Male
AG   1D
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 15
//
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).
//
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=7253718; DOI=10.1016/0047-6374(81)90027-0;
RA   Das N.K., Murphy D.G.;
RT   "The National Institute on Aging repository cell cultures.";
RL   Mech. Ageing Dev. 16:1-17(1981).
//