Cellosaurus cell line HCG-1-#31 (CVCL

Cross-references
Cell line name	HCG-1-#31
Accession	CVCL_RJ19
Resource Identification Initiative	To cite this cell line use: HCG-1-#31 (RRID:CVCL_RJ19)
Comments	Population: Japanese. Donor information: Established from a patient said to be suffering from hypochondrogenesis. 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.Gly450Arg (c.1348G>C); ClinVar=VCV001326897; 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_RJ20 ! HCG-1-#32 CVCL_RJ21 ! HCG-1-#33 CVCL_RJ22 ! HCG-1-iChon
Sex of cell	Male
Age at sampling	2M
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)
Cell line databases/resources	SKIP; SKIP000803
Encyclopedic resources	Wikidata; Q54881872
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11