ID   SZ-beta-thal8
AC   CVCL_YL02
SY   SZ-beta-thal8 PGD; b-thal#8
DR   NIHhESC; NIHhESC-20-0462
DR   Wikidata; Q98132962
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-20-0462.
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Trp38Ter (c.114G>A) (W37*); ClinVar=VCV000015405; Zygosity=Homozygous (NIHhESC=NIHhESC-20-0462).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
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: 11
//