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Cellosaurus GM07892 (CVCL_GR12)

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

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; GM07892
Cell line databases/resources CLO; CLO_0010315
Encyclopedic resources Wikidata; Q54842988
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number11