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Cellosaurus GM11902 (CVCL_JX72)

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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
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 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