ID   HCG-1-#32
AC   CVCL_RJ20
DR   SKIP; SKIP000804
DR   Wikidata; Q54881873
RX   PubMed=25187577;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:2200; COL2A1; Simple; p.Gly450Arg (c.1348G>C); ClinVar=VCV001326897; Zygosity=Heterozygous (PubMed=25187577).
CC   Donor information: Established from a patient said to be suffering from hypochondrogenesis.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3816; Type II achondrogenesis
DI   ORDO; Orphanet_93296; Achondrogenesis type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RJ19 ! HCG-1-#31
OI   CVCL_RJ21 ! HCG-1-#33
OI   CVCL_RJ22 ! HCG-1-iChon
SX   Male
AG   2M
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
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).
//