ID   KCL027
AC   CVCL_A260
SY   KCL-027; HD-5; HD5; KCL027_HD5
DR   NIHhESC; NIHhESC-13-0223
DR   Wikidata; Q54899673
RX   PubMed=27345982;
WW   https://www.kcl.ac.uk/lsm/research/divisions/wh/groups/medicine/hescell.aspx
CC   From: King's College London; London; United Kingdom.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-13-0223.
CC   Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC11-47.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[43] (c.52CAG(43)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=27345982).
CC   Donor information: Embryo is sibling to that giving rise to KCL028 (Cellosaurus=CVCL_A261).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 19-12-24; Version: 24
//
RX   PubMed=27345982; DOI=10.1016/j.scr.2016.01.008; PMCID=PMC4823767;
RA   Jacquet L., Hewitson H., Wood V., Kadeva N., Cornwell G.,
RA   Codognotto S., Hobbs C., Stephenson E.L., Ilic D.;
RT   "Generation of KCL027 research grade human embryonic stem cell line
RT   carrying a mutation in the HTT gene.";
RL   Stem Cell Res. 16:274-277(2016).
//