ID   ACGII-2-#21
AC   CVCL_RJ15
DR   SKIP; SKIP000800
DR   Wikidata; Q54608354
RX   PubMed=25187577;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:2200; COL2A1; Simple; p.Gly1182Ala; Zygosity=Heterozygous (PubMed=25187577).
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_RJ16 ! ACGII-2-#22
OI   CVCL_RJ17 ! ACGII-2-#23
OI   CVCL_RJ18 ! ACGII-2-iChon
SX   Male
AG   4M
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).
//