ID   SZ-Fanconi C
AC   CVCL_YL31
SY   SZ-Fanconi C PGD
DR   NIHhESC; NIHhESC-20-0476
DR   Wikidata; Q98132998
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-20-0476.
CC   Sequence variation: Mutation; HGNC; HGNC:3584; FANCC; Simple; c.456+4A>T (IVS4+4A>T); ClinVar=VCV000012045; Zygosity=Unspecified; Note=Splice donor mutation (Direct_author_submission).
CC   Miscellaneous: Sex of donor and 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; C125704; Fanconi anemia, complementation group C
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 9
//