ID   CRICKi009-A
AC   CVCL_C5T1
SY   iFCI012 Clone 4; iBK983
DR   BioSamples; SAMEA112239881
DR   hPSCreg; CRICKi009-A
DR   Wikidata; Q116048792
RX   PubMed=39549334;
CC   From: The Francis Crick Institute Limited; London; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:12687; VHL; Simple; p.Val137Cysfs*22 (c.409delG); 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   22Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 10-04-25; Version: 5
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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).
//