Cellosaurus logo
expasy logo

Cellosaurus SZ-beta-thal8 (CVCL_YL02)

[Text version]
Cell line name SZ-beta-thal8
Synonyms SZ-beta-thal8 PGD; b-thal#8
Accession CVCL_YL02
Resource Identification Initiative To cite this cell line use: SZ-beta-thal8 (RRID:CVCL_YL02)
Comments From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0462.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:4827; HBB; Simple; p.Trp38Ter (c.114G>A) (W37*); ClinVar=VCV000015405; Zygosity=Homozygous (NIHhESC=NIHhESC-20-0462).
Disease Beta thalassemia (NCIt: C34375)
Beta-thalassemia major (ORDO: Orphanet_231214)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling Blastocyst stage
Category Embryonic stem cell
Web pages https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
Cross-references
Cell line databases/resources NIHhESC; NIHhESC-20-0462
Encyclopedic resources Wikidata; Q98132962
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number10