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Cellosaurus SZ-HTT3 (CVCL_YL53)

[Text version]
Cell line name SZ-HTT3
Synonyms SZ-HTT3 PGD; HTT#3
Accession CVCL_YL53
Resource Identification Initiative To cite this cell line use: SZ-HTT3 (RRID:CVCL_YL53)
Comments From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0471.
Miscellaneous: Sequence variation from personal communication of Eiges, Rachel.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[32] (c.52CAG(32)) (c.52CAG[(27_35)]); ClinVar=VCV000031915; Zygosity=Heterozygous (Direct_author_submission).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
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-20-0471
Encyclopedic resources Wikidata; Q98133017
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9