ID   GM10688
AC   CVCL_0Q17
DR   CLO; CLO_0024623
DR   BioSample; SAMN00800156
DR   Coriell; GM10688
DR   Wikidata; Q54844591
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Karyotypic information: 46,XY,inv(9)(pter->p11::q13->p11::q13->qter) (Coriell=GM10688).
CC   Sequence variation: Mutation; HGNC; 3690; FGFR3; Simple; p.Arg248Cys (c.742C>T); ClinVar=VCV000016332; Zygosity=Heterozygous (Coriell=GM10688).
CC   Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C85187; Thanatophoric dysplasia
DI   ORDO; Orphanet_2655; Thanatophoric dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   22FW
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 15
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//