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Cellosaurus GM11902 (CVCL_JX72)

[Text version]
Cell line name GM11902
Accession CVCL_JX72
Resource Identification Initiative To cite this cell line use: GM11902 (RRID:CVCL_JX72)
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 Children:
CVCL_RJ23 (SPD-1-iChon)
Sex of cell Male
Age at sampling 2M2W
Category Finite cell line
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 collections (Providers) Coriell; GM11902
Cell line databases/resources CLO; CLO_0020036
Encyclopedic resources Wikidata; Q54845337
Entry history
Entry creation22-Aug-2017
Last entry update19-Dec-2024
Version number11