Cellosaurus cell line SZ-DM14 (CVCL

Cross-references
Cell line name	SZ-DM14
Synonyms	SZ-DM14 PGD; DM#14
Accession	CVCL_YL18
Resource Identification Initiative	To cite this cell line use: SZ-DM14 (RRID:CVCL_YL18)
Comments	From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel. Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0431. 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	Female
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)
Cell line databases/resources	NIHhESC; NIHhESC-20-0431
Encyclopedic resources	Wikidata; Q98132983
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	8