Cellosaurus cell line TD1-10749-2 (CVCL

Cross-references
Cell line name	TD1-10749-2
Accession	CVCL_RJ28
Resource Identification Initiative	To cite this cell line use: TD1-10749-2 (RRID:CVCL_RJ28)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Arg248Cys (c.742C>T); ClinVar=VCV000016332; Zygosity=Heterozygous (PubMed=25231866).
Disease	Thanatophoric dysplasia (NCIt: C85187) Thanatophoric dysplasia (ORDO: Orphanet_2655)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_0Q23 (GM10749)
Sex of cell	Male
Age at sampling	3D
Category	Induced pluripotent stem cell
Publications	PubMed=25231866; DOI=10.1038/nature13775 Yamashita A., Morioka M., Kishi H., Kimura T., Yahara Y., Okada M., Fujita K., Sawai H., Ikegawa S., Tsumaki N. Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. Nature 513:507-511(2014)
Cell line databases/resources	SKIP; SKIP000813
Encyclopedic resources	Wikidata; Q54971903
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11