Cellosaurus cell line C11011 (CVCL

Cross-references
Cell line name	C11011
Accession	CVCL_VG28
Resource Identification Initiative	To cite this cell line use: C11011 (RRID:CVCL_VG28)
Comments	Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:5173; HRAS; Simple; p.Gly12Ser (c.34G>A); ClinVar=VCV000012602; Zygosity=Unspecified (PubMed=26740656).
Disease	Costello syndrome (NCIt: C84652) Costello syndrome (ORDO: Orphanet_3071)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	1Y
Category	Induced pluripotent stem cell
Publications	PubMed=26740656; DOI=10.1523/JNEUROSCI.1547-15.2016; PMCID=PMC4701956 Gemma E. Rooney, Alice F. Goodwin, Philippe Depeille, Amnon Sharir, Claude M. Schofield, Erika Yeh, Jeroen P. Roose, Ophir David Klein, Katherine A. Rauen, Lauren A. Weiss, Erik M. Ullian; Human iPS cell-derived neurons uncover the impact of increased Ras signaling in Costello syndrome. J. Neurosci. 36:142-152(2016)
Cell line databases/resources	SKIP; SKIP001328
Encyclopedic resources	Wikidata; Q54807834
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	10