ID   KCL012
AC   CVCL_A246
SY   KCL-012; HD-3; HD3; KCL012_HD3; KCLe009-A
DR   hPSCreg; KCLe009-A
DR   ISCR; 1867
DR   NIHhESC; NIHhESC-13-0213
DR   SKIP; SKIP002357
DR   Wikidata; Q54899660
RX   PubMed=27345979;
CC   From: King's College London; London; United Kingdom.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-13-0213.
CC   Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC10-32.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[46] (c.52CAG(46)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=27345979).
CC   Donor information: Embryo is sibling to that giving rise to KCL013 (Cellosaurus=CVCL_A247).
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: 29-06-23; Version: 23
RX   PubMed=27345979; DOI=10.1016/j.scr.2016.01.012;
RA   Jacquet L., Hewitson H., Wood V., Kadeva N., Cornwell G.,
RA   Codognotto S., Hobbs C., Stephenson E.L., Ilic D.;
RT   "Generation of KCL012 research grade human embryonic stem cell line
RT   carrying a mutation in the HTT gene.";
RL   Stem Cell Res. 16:264-267(2016).