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Cellosaurus chHES-472 (CVCL_XA13)

[Text version]
Cell line name chHES-472
Accession CVCL_XA13
Resource Identification Initiative To cite this cell line use: chHES-472 (RRID:CVCL_XA13)
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:7106; ATXN3; Repeat_expansion; c.892CAG[~74]; Zygosity=Heterozygous (PubMed=27934588).
Disease Spinocerebellar ataxia type 3 (NCIt: C84830)
Spinocerebellar ataxia type 3 (ORDO: Orphanet_98757)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=27934588; DOI=10.1016/j.scr.2016.10.001
Liu L.-J., Zeng S.-C., Sun Y., Zhou X.-Y., Chen J., Du J., Lu G.-X., Lin G., Ouyang Q.
Generation of human embryonic stem cell line chHES-472 from abnormal embryos diagnosed with spinocerebellar ataxia type 3.
Stem Cell Res. 17:584-586(2016)

Cross-references
Encyclopedic resources Wikidata; Q93449754
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number8