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Cellosaurus ACGII-2-#23 (CVCL_RJ17)

[Text version]
Cell line name ACGII-2-#23
Accession CVCL_RJ17
Resource Identification Initiative To cite this cell line use: ACGII-2-#23 (RRID:CVCL_RJ17)
Comments Population: Japanese.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2200; COL2A1; Simple; p.Gly1182Ala; 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)
Originate from same individual CVCL_RJ15 ! ACGII-2-#21
CVCL_RJ16 ! ACGII-2-#22
CVCL_RJ18 ! ACGII-2-iChon
Sex of cell Male
Age at sampling 4M
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; SKIP000802
Encyclopedic resources Wikidata; Q54608359
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9