ID   KCL017
AC   CVCL_A250
SY   KCL-017; VHL4; KCL017_VHL4; KCLe013-A
DR   hPSCreg; KCLe013-A
DR   ISCR; 1871
DR   NIHhESC; NIHhESC-13-0217
DR   SKIP; SKIP002361
DR   Wikidata; Q54899664
RX   PubMed=27345980;
CC   From: King's College London; London; United Kingdom.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-13-0217.
CC   Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC10-34.
CC   Sequence variation: Mutation; HGNC; 12687; VHL; Simple; c.676+3A>T; Zygosity=Heterozygous (PubMed=27345980).
CC   Donor information: Embryo is sibling to those giving rise to KCL015 (Cellosaurus=CVCL_A248) and KCL016 (Cellosaurus=CVCL_A249).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
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   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 29-06-23; Version: 22
//
RX   PubMed=27345980; DOI=10.1016/j.scr.2016.01.013;
RA   Hewitson H., Wood V., Kadeva N., Cornwell G., Codognotto S.,
RA   Stephenson E., Ilic D.;
RT   "Generation of KCL017 research grade human embryonic stem cell line
RT   carrying a mutation in VHL gene.";
RL   Stem Cell Res. 16:268-270(2016).
//