Cellosaurus logo
expasy logo

Cellosaurus SPD-1-iChon (CVCL_RJ23)

[Text version]
Cell line name SPD-1-iChon
Accession CVCL_RJ23
Resource Identification Initiative To cite this cell line use: SPD-1-iChon (RRID:CVCL_RJ23)
Comments Population: Caucasian.
Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
Cell type: Fibroblast of foreskin; CL=CL_1001608.
Sequence variations
  • Mutation; HGNC; HGNC:2200; COL2A1; Simple; p.Lys1447Cysfs*18 (c.4337dupG); Zygosity=Heterozygous (PubMed=25187577).
Disease Spondyloperipheral dysplasia (NCIt: C135088)
Spondyloperipheral dysplasia-short ulna syndrome (ORDO: Orphanet_1856)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_JX72 (GM11902)
Sex of cell Male
Age at sampling 2M2W
Category Induced pluripotent stem cell
Publications

PubMed=25187577; DOI=10.1093/hmg/ddu444
Okada M., Ikegawa S., Morioka M., Yamashita A., Saito A., Sawai H., Murotsuki J., Ohashi H., Okamoto T., Nishimura G., Imaizumi K., Tsumaki N.
Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.
Hum. Mol. Genet. 24:299-313(2015)

Cross-references
Cell line databases/resources SKIP; SKIP001227
Encyclopedic resources Wikidata; Q54955537
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9