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Cellosaurus SZ-DM9 (CVCL_YL28)

[Text version]
Cell line name SZ-DM9
Synonyms SZ-DM9 PGD; DM#9
Accession CVCL_YL28
Resource Identification Initiative To cite this cell line use: SZ-DM9 (RRID:CVCL_YL28)
Comments From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0428.
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[~180] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (PubMed=26190529).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Blastocyst stage
Category Embryonic stem cell
Web pages https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
Publications

PubMed=26190529; DOI=10.1016/j.stemcr.2015.06.003; PMCID=PMC4618658
Yanovsky-Dagan S., Avitzour M., Altarescu G., Renbaum P., Eldar-Geva T., Schonberger O., Mitrani-Rosenbaum S., Levy-Lahad E., Birnbaum R.Y., Gepstein L., Epsztejn-Litman S., Eiges R.
Uncovering the role of hypermethylation by CTG expansion in myotonic dystrophy type 1 using mutant human embryonic stem cells.
Stem Cell Reports 5:221-231(2015)

Cross-references
Cell line databases/resources NIHhESC; NIHhESC-20-0428
Encyclopedic resources Wikidata; Q98132993
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number8