ID   UUIGPi001-A
AC   CVCL_WT78
SY   VHL2-10
DR   hPSCreg; UUIGPi001-A
DR   Wikidata; Q98134405
RX   PubMed=31176917;
CC   From: Department of Immunology, Genetics and Pathology, Uppsala University; Uppsala; Sweden.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12687; VHL; Simple; p.Ser65Trp (c.194C>G); ClinVar=VCV000043597; Zygosity=Heterozygous (PubMed=31176917).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3105; Von Hippel-Lindau syndrome
DI   ORDO; Orphanet_892; Von Hippel-Lindau disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31176917; DOI=10.1016/j.scr.2019.101474;
RA   Schuster J., Fatima A., Schwarz F., Klar J., Laan L., Dahl N.;
RT   "Generation of human induced pluripotent stem cell (iPSC) lines from
RT   three patients with von Hippel-Lindau syndrome carrying distinct VHL
RT   gene mutations.";
RL   Stem Cell Res. 38:101474-101474(2019).
//