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Cellosaurus KCL012 (CVCL_A246)

[Text version]

Cell line name KCL012
Synonyms KCL-012; HD-3; HD3; KCL012_HD3; KCLe009-A
Accession CVCL_A246
Resource Identification Initiative To cite this cell line use: KCL012 (RRID:CVCL_A246)
Comments From: King's College London; London; United Kingdom.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-13-0213.
Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC10-32.
Miscellaneous: Sibling to KCL013 (CVCL_A247).
Sequence variations Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[46] (c.52CAG(46)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=27345979).
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
https://grants.nih.gov/stem_cells/registry/current.htm?id=650
Publications

PubMed=27345979; DOI=10.1016/j.scr.2016.01.012
Jacquet L., Hewitson H., Wood V., Kadeva N., Cornwell G., Codognotto S., Hobbs C., Stephenson E., Ilic D.
Generation of KCL012 research grade human embryonic stem cell line carrying a mutation in the HTT gene.
Stem Cell Res. 16:264-267(2016)

Cross-references
Cell line databases/resources hPSCreg; KCLe009-A
ISCR; 1867
SKIP; SKIP002357
Encyclopedic resources Wikidata; Q54899660
Entry history
Entry creation06-Jun-2012
Last entry update16-Dec-2021
Version number20