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Cellosaurus KCL027 (CVCL_A260)

[Text version]
Cell line name KCL027
Synonyms KCL-027; HD-5; HD5; KCL027_HD5
Accession CVCL_A260
Resource Identification Initiative To cite this cell line use: KCL027 (RRID:CVCL_A260)
Comments From: King's College London; London; United Kingdom.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-13-0223.
Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC11-47.
Donor information: Embryo is sibling to that giving rise to KCL028 (Cellosaurus=CVCL_A261).
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[43] (c.52CAG(43)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=27345982).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Blastocyst stage
Category Embryonic stem cell
Web pages https://www.kcl.ac.uk/lsm/research/divisions/wh/groups/medicine/hescell.aspx
Publications

PubMed=27345982; DOI=10.1016/j.scr.2016.01.008; PMCID=PMC4823767
Jacquet L., Hewitson H., Wood V., Kadeva N., Cornwell G., Codognotto S., Hobbs C., Stephenson E.L., Ilic D.
Generation of KCL027 research grade human embryonic stem cell line carrying a mutation in the HTT gene.
Stem Cell Res. 16:274-277(2016)

Cross-references
Cell line databases/resources NIHhESC; NIHhESC-13-0223
Encyclopedic resources Wikidata; Q54899673
Entry history
Entry creation06-Jun-2012
Last entry update19-Dec-2024
Version number24