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Cellosaurus chHES-458 (CVCL_A4GE)

[Text version]
Cell line name chHES-458
Accession CVCL_A4GE
Resource Identification Initiative To cite this cell line use: chHES-458 (RRID:CVCL_A4GE)
Comments From: National Engineering and Research Center of Human Stem Cells; Changsha; China.
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[52] (c.52CAG(52)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=27934595).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=27934595; DOI=10.1016/j.scr.2016.11.002
Xie P.-Y., Sun Y.-F., Zhou X.-Y., Chen J., Du J., Sun Y., Lu G.-X., Lin G., Ouyang Q.
Generation of human embryonic stem cell line chHES-458 from abnormal embryos with HTT gene mutation.
Stem Cell Res. 17:627-629(2016)

Cross-references
Encyclopedic resources Wikidata; Q105506607
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6