ID   GM00712
AC   CVCL_0P83
SY   GM-712; AG00712; AG-712; AG 712; AG0712
DR   CLO; CLO_0028890
DR   Coriell; AG00712
DR   Coriell; GM00712
DR   Wikidata; Q54836404
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7253718;
CC   Sequence variation: Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Arg248Cys (c.742C>T); ClinVar=VCV000016332; Zygosity=Heterozygous (Coriell=GM00712).
CC   Discontinued: Coriell; AG00712; probable.
CC   Derived from site: In situ; Spleen; UBERON=UBERON_0002106.
CC   Cell type: Fibroblast of spleen; CL=CL_2000051.
DI   NCIt; C85187; Thanatophoric dysplasia
DI   ORDO; Orphanet_2655; Thanatophoric dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_0P82 ! GM00711
OI   CVCL_0P84 ! GM00713
OI   CVCL_0P85 ! GM00714
SX   Male
AG   1D
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 17
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0;
RA   Das, Nirmal K.
RA   Murphy, Donald G.
RT   "The National Institute on Aging repository cell cultures.";
RL   Mech. Ageing Dev. 16:1-17(1981).
//
RX   CelloPub=CLPUB00387;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur E.
RA   Mulivor, Richard 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//