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Cellosaurus KCL018 (CVCL_A251)

[Text version]
Cell line name KCL018
Synonyms KCL018(MD1); KCL-018; KCL018_MD1; MD1; KCLe014-A
Accession CVCL_A251
Resource Identification Initiative To cite this cell line use: KCL018 (RRID:CVCL_A251)
Comments From: King's College London; London; United Kingdom.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-13-0218.
Registration: UK Stem Cell Bank (UKSCB); R-13-006, Steering comm. appl. SCSC10-30.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~2200] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=27346000).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Web pages Provider; KCL; -; https://www.kcl.ac.uk/research/stem-cell-research
Publications

PubMed=27346000; DOI=10.1016/j.scr.2016.01.004; PMCID=PMC4823665
Miere C., Hewitson H., Devito L.G., Wood V., Kadeva N., Cornwell G., Codognotto S., Stephenson E.L., Ilic D.
Generation of KCL018 research grade human embryonic stem cell line carrying a mutation in the DMPK gene.
Stem Cell Res. 16:342-344(2016)

Cross-references
Cell line databases/resources hPSCreg; KCLe014-A
NIHhESC; NIHhESC-13-0218
SKIP; SKIP002362
Encyclopedic resources Wikidata; Q54899665
Entry history
Entry creation06-Jun-2012
Last entry update10-Apr-2025
Version number25