ID   SZ-DC3
AC   CVCL_YL14
SY   SZ-DC3 PGD; DC#3
DR   NIHhESC; NIHhESC-20-0479
DR   Wikidata; Q98132977
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-20-0479.
CC   Sequence variation: Mutation; HGNC; HGNC:11730; TERT; Simple; p.Arg631Gln (c.1892G>A); ClinVar=VCV000029899; Zygosity=Unspecified (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; C111802; Dyskeratosis congenita
DI   ORDO; Orphanet_1775; Dyskeratosis congenita
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: 10
//