ID   SPD-1-iChon
AC   CVCL_RJ23
DR   SKIP; SKIP001227
DR   Wikidata; Q54955537
RX   PubMed=25187577;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2200; COL2A1; Simple; p.Lys1447Cysfs*18 (c.4337dupG); Zygosity=Heterozygous (PubMed=25187577).
CC   Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
CC   Cell type: Fibroblast of foreskin; CL=CL_1001608.
DI   NCIt; C135088; Spondyloperipheral dysplasia
DI   ORDO; Orphanet_1856; Spondyloperipheral dysplasia-short ulna syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_JX72 ! GM11902
SX   Male
AG   2M2W
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).
//