ID   ACGII-1-#1
AC   CVCL_RJ12
DR   SKIP; SKIP000797
DR   Wikidata; Q54608348
RX   PubMed=25187577;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 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)
HI   CVCL_GR12 ! GM07892
SX   Female
AG   32FW
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
//
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).
//