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Cellosaurus ACGII-1-#1 (CVCL_RJ12)

[Text version]
Cell line name ACGII-1-#1
Accession CVCL_RJ12
Resource Identification Initiative To cite this cell line use: ACGII-1-#1 (RRID:CVCL_RJ12)
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 Parent: CVCL_GR12 (GM07892)
Sex of cell Female
Age at sampling 32FW
Category Induced pluripotent stem cell
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 databases/resources SKIP; SKIP000797
Encyclopedic resources Wikidata; Q54608348
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9