ID   KCL024
AC   CVCL_A257
SY   KCL-024; KCL024_NF1-1
DR   NIHhESC; NIHhESC-13-0220
DR   Wikidata; Q54899671
RX   PubMed=27345975;
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-13-0220.
CC   Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC11-48.
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; p.Phe1247Ilefs*18 (c.3739_3742delTTTG) (3737_3740delTGTT); ClinVar=VCV000420078; Zygosity=Heterozygous (PubMed=27345975).
CC   Donor information: Embryo is sibling to that giving rise to KCL025 (Cellosaurus=CVCL_A258).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C3273; Neurofibromatosis type 1
DI   ORDO; Orphanet_636; Neurofibromatosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 19-12-24; Version: 24
//
RX   PubMed=27345975; DOI=10.1016/j.scr.2016.01.010; PMCID=PMC4823759;
RA   Hewitson H., Wood V., Kadeva N., Cornwell G., Codognotto S.,
RA   Stephenson E.L., Ilic D.;
RT   "Generation of KCL024 research grade human embryonic stem cell line
RT   carrying a mutation in NF1 gene.";
RL   Stem Cell Res. 16:243-245(2016).
//