Cellosaurus cell line HCG-1-#33 (CVCL

Cross-references
Cell line name	HCG-1-#33
Accession	CVCL_RJ21
Resource Identification Initiative	To cite this cell line use: HCG-1-#33 (RRID:CVCL_RJ21)
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_RJ19 ! HCG-1-#31 CVCL_RJ20 ! HCG-1-#32 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 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)
Cell line databases/resources	SKIP; SKIP000805
Encyclopedic resources	Wikidata; Q54881874
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11