Cellosaurus cell line UUIGPi001-A (CVCL

Cross-references
Cell line name	UUIGPi001-A
Synonyms	VHL2-10
Accession	CVCL_WT78
Resource Identification Initiative	To cite this cell line use: UUIGPi001-A (RRID:CVCL_WT78)
Comments	From: Department of Immunology, Genetics and Pathology, Uppsala University; Uppsala; Sweden. Population: Caucasian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12687; VHL; Simple; p.Ser65Trp (c.194C>G); ClinVar=VCV000043597; Zygosity=Heterozygous (PubMed=31176917).
Disease	Von Hippel-Lindau syndrome (NCIt: C3105) Von Hippel-Lindau disease (ORDO: Orphanet_892)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	19Y
Category	Induced pluripotent stem cell
Publications	PubMed=31176917; DOI=10.1016/j.scr.2019.101474 Schuster J., Fatima A., Schwarz F., Klar J., Laan L., Dahl N. Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations. Stem Cell Res. 38:101474-101474(2019)
Cell line databases/resources	hPSCreg; UUIGPi001-A
Encyclopedic resources	Wikidata; Q98134405
Entry history
Entry creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	9