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Cellosaurus SZ-DM5 (CVCL_Y328)

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Cell line name SZ-DM5
Accession CVCL_Y328
Resource Identification Initiative To cite this cell line use: SZ-DM5 (RRID:CVCL_Y328)
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[~300] (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 Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=21585244; DOI=10.1089/scd.2011.0102; PMCID=PMC3272241
Dalit Ben-Yosef, Ami Amit, Mira Malcov, Tsvia Frumkin, Ahmi Ben-Yehudah, Ido Eldar, Nava Mey-Raz, Foad Azem, Gheona Altarescu, Paul Renbaum, Rachel Beeri ...Show all 16 authors... , Irit Varshaver, Talia Eldar-Geva, Silvina Epsztejn-Litman, Ephrat Levy-Lahad, Rachel Eiges; Show fewer authors
Female sex bias in human embryonic stem cell lines.
Stem Cells Dev. 21:363-372(2012)

PubMed=26190529; DOI=10.1016/j.stemcr.2015.06.003; PMCID=PMC4618658
Shira Yanovsky-Dagan, Michal Avitzour, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Oshrat Schonberger, Stella Mitrani-Rosenbaum, Ephrat Levy-Lahad, Ramon Y. Birnbaum, Lior Gepstein, Silvina Epsztejn-Litman, Rachel Eiges;
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; Q54971302
Entry history
Entry creation07-Nov-2014
Last entry update19-Dec-2024
Version number10