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Cellosaurus GM07892 (CVCL_GR12)

[Text version]
Cell line name GM07892
Accession CVCL_GR12
Resource Identification Initiative To cite this cell line use: GM07892 (RRID:CVCL_GR12)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 2200; COL2A1; Unexplicit; Exon 41 acceptor site T>C substitution; Zygosity=Heterozygous (PubMed=25187577).
Disease Type II achondrogenesis (NCIt: C3816)
Achondrogenesis type 2 (ORDO: Orphanet_93296)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_RJ12 (ACGII-1-#1)CVCL_RJ13 (ACGII-1-#2)CVCL_RJ14 (ACGII-1-#3)
Sex of cell Female
Age at sampling 32FW
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

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; GM07892
Cell line databases/resources CLO; CLO_0010315
Encyclopedic resources Wikidata; Q54842988
Entry history
Entry creation26-Sep-2016
Last entry update29-Jun-2023
Version number10