ID   GM07892
AC   CVCL_GR12
DR   CLO; CLO_0010315
DR   Coriell; GM07892
DR   Wikidata; Q54842988
RX   CelloPub=CLPUB00447;
RX   PubMed=25187577;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 2200; COL2A1; Unexplicit; Exon 41 acceptor site T>C substitution; Zygosity=Heterozygous (PubMed=25187577).
CC   Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C3816; Type II achondrogenesis
DI   ORDO; Orphanet_93296; Achondrogenesis type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32FW
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 29-06-23; Version: 10
//
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   PubMed=25187577; DOI=10.1093/hmg/ddu444;
RA   Okada M., Ikegawa S., Morioka M., Yamashita A., Saito A., Sawai H.,
RA   Murotsuki J., Ohashi H., Okamoto T., Nishimura G., Imaizumi K.,
RA   Tsumaki N.;
RT   "Modeling type II collagenopathy skeletal dysplasia by directed
RT   conversion and induced pluripotent stem cells.";
RL   Hum. Mol. Genet. 24:299-313(2015).
//