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Cellosaurus SZ-DM3 (CVCL_YL03)

[Text version]
Cell line name SZ-DM3
Accession CVCL_YL03
Resource Identification Initiative To cite this cell line use: SZ-DM3 (RRID:CVCL_YL03)
Comments From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
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[~2000] (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 Sex unspecified
Age at sampling Blastocyst stage
Category Embryonic stem cell
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
Encyclopedic resources Wikidata; Q98132989
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number7