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Cellosaurus ACGII-2-#21 (CVCL_RJ15)

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Cell line name ACGII-2-#21
Accession CVCL_RJ15
Resource Identification Initiative To cite this cell line use: ACGII-2-#21 (RRID:CVCL_RJ15)
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_RJ16 ! ACGII-2-#22
CVCL_RJ17 ! ACGII-2-#23
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
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; SKIP000800
Encyclopedic resources Wikidata; Q54608354
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9