ID   SZ-BRCA2-1
AC   CVCL_YL07
SY   SZ-BRCA2-1 PGD; BRCA2#1
DR   NIHhESC; NIHhESC-20-0470
DR   Wikidata; Q98132966
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-20-0470.
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Ser1982Argfs*22 (c.5946delT) (6174delT); ClinVar=VCV000009325; Zygosity=Heterozygous (NIHhESC=NIHhESC-20-0470).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C36101; BRCA2 syndrome
DI   ORDO; Orphanet_145; Hereditary breast and ovarian cancer 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: 10-04-25; Version: 12
//