ID   KCL026
AC   CVCL_A259
SY   KCL026(SMA); KCL-026; KCL026_SMA
DR   NIHhESC; NIHhESC-13-0222
DR   Wikidata; Q54899672
RX   PubMed=27345977;
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-13-0222.
CC   Registration: UK Stem Cell Bank (UKSCB); R-14-014, Steering comm. appl. SCSC11-49.
CC   Sequence variation: Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Heterozygous (PubMed=27345977).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C98670; Werdnig-Hoffmann disease
DI   ORDO; Orphanet_83330; Proximal spinal muscular atrophy type 1
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: 22
//
RX   PubMed=27345977; DOI=10.1016/j.scr.2016.01.005; PMCID=PMC4823667;
RA   Hewitson H., Wood V., Kadeva N., Cornwell G., Codognotto S.,
RA   Stephenson E.L., Ilic D.;
RT   "Generation of KCL026 research grade human embryonic stem cell line
RT   carrying a mutation in SMN1 gene.";
RL   Stem Cell Res. 16:249-251(2016).
//