ID   CRICKi010-A
AC   CVCL_C5T2
SY   iFCI013 Clone 7; iBK985
DR   BioSamples; SAMEA112239931
DR   hPSCreg; CRICKi010-A
DR   Wikidata; Q116048793
RX   PubMed=39549334;
CC   From: The Francis Crick Institute Limited; London; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:12687; VHL; Simple; p.Phe136Ser (c.407T>C); ClinVar=VCV000496064; Zygosity=Heterozygous (PubMed=39549334).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   23Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 10-04-25; Version: 5
//
RX   PubMed=39549334; DOI=10.1016/j.scr.2024.103611;
RA   Devito L.G., Lim E.S.-Y., O'Toole S.M., Shepherd S.T.C., Deng D.-Q.,
RA   Feng H.-G., Barber T., Drake W.M., Turajlic S., Healy L.E.;
RT   "Generation of two iPSC lines (CRICKi009-A; CRICKi010-A) from patients
RT   with type 1 von Hippel-Lindau (VHL) and histopathologically confirmed
RT   renal cell carcinoma (RCC).";
RL   Stem Cell Res. 81:103611-103611(2024).
//