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Cellosaurus ACGII-1-#2 (CVCL_RJ13)

[Text version]
Cell line name ACGII-1-#2
Accession CVCL_RJ13
Resource Identification Initiative To cite this cell line use: ACGII-1-#2 (RRID:CVCL_RJ13)
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
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 databases/resources SKIP; SKIP000798
Encyclopedic resources Wikidata; Q54608349
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9