ID   KCL018
AC   CVCL_A251
SY   KCL-018; KCL018_MD1; MD1; KCLe014-A
DR   hPSCreg; KCLe014-A
DR   ISCR; 1872
DR   NIHhESC; NIHhESC-13-0218
DR   SKIP; SKIP002362
DR   Wikidata; Q54899665
RX   PubMed=27346000;
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-13-0218.
CC   Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC10-30.
CC   Sequence variation: Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[~2200] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=27346000).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C84679; Dystrophia myotonica 1
DI   ORDO; Orphanet_273; Steinert myotonic dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 29-06-23; Version: 22
//
RX   PubMed=27346000; DOI=10.1016/j.scr.2016.01.004;
RA   Miere C., Hewitson H., Devito L.G., Wood V., Kadeva N., Cornwell G.,
RA   Codognotto S., Stephenson E., Ilic D.;
RT   "Generation of KCL018 research grade human embryonic stem cell line
RT   carrying a mutation in the DMPK gene.";
RL   Stem Cell Res. 16:342-344(2016).
//