ID   KCL012
AC   CVCL_A246
SY   KCL012(HD3); KCL-012; HD-3; HD3; KCL012_HD3; KCLe009-A
DR   hPSCreg; KCLe009-A
DR   NIHhESC; NIHhESC-13-0213
DR   SKIP; SKIP002357
DR   Wikidata; Q54899660
RX   PubMed=27345979;
WW   Provider; KCL; -; https://www.kcl.ac.uk/research/stem-cell-research
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); R-14-002, Steering comm. appl. SCSC10-32.
CC   Sequence variation: Mutation; HGNC; 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: 10-04-25; Version: 26
//
RX   PubMed=27345979; DOI=10.1016/j.scr.2016.01.012; PMCID=PMC4823764;
RA   Jacquet, Laureen
RA   Hewitson, Heema
RA   Wood, Victoria
RA   Kadeva, Neli
RA   Cornwell, Glenda
RA   Codognotto, Stefano
RA   Hobbs, Carl
RA   Stephenson, Emma L.
RA   Ilic, Dusko
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).
//