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Cellosaurus SPD-1-iChon (CVCL_RJ23)

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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
Minoru Okada, Shiro Ikegawa, Miho Morioka, Akihiro Yamashita, Atsushi Saito, Hideaki Sawai, Jun Murotsuki, Hirofumi Ohashi, Toshio Okamoto, Gen Nishimura, Kazunori Imaizumi, Noriyuki Tsumaki;
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