ID   SZ-BOR2
AC   CVCL_YL04
SY   SZ-BOR2 PGD; BOR#2
DR   NIHhESC; NIHhESC-20-0437
DR   Wikidata; Q98132964
WW   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-20-0437.
CC   Sequence variation: Mutation; HGNC; HGNC:3519; EYA1; Simple; c.433delG; 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; C98983; Melnick-Fraser syndrome
DI   ORDO; Orphanet_107; BOR syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 10
//