ID   SZ-VHL1
AC   CVCL_YL69
SY   SZ-VHL1 PGD; VHL#1
DR   NIHhESC; NIHhESC-20-0482
DR   Wikidata; Q98133051
WW   Provider; SZMC; -; https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0482.
CC   Sequence variation: Mutation; HGNC; HGNC:12687; VHL; Simple; p.Arg64Pro (c.191G>C); ClinVar=VCV000002226; Zygosity=Unspecified (Direct_author_submission).
CC   Miscellaneous: Sequence variation from personal communication of Eiges, Rachel.
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   Sex unspecified
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 19-12-19; Last updated: 10-04-25; Version: 10
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