ID   SZ-DM1
AC   CVCL_Y325
SY   SZ-DM1 PGD; DM#1
DR   NIHhESC; NIHhESC-20-0421
DR   Wikidata; Q54971299
RX   PubMed=21585244;
RX   PubMed=26190529;
WW   https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0421.
CC   Sequence variation: Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~1000] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (PubMed=26190529).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C84679; Dystrophia myotonica 1
DI   ORDO; Orphanet_273; Steinert myotonic dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 07-11-14; Last updated: 19-12-24; Version: 11
//
RX   PubMed=21585244; DOI=10.1089/scd.2011.0102; PMCID=PMC3272241;
RA   Ben-Yosef D., Amit A., Malcov M., Frumkin T., Ben-Yehudah A.,
RA   Eldar I., Mey-Raz N., Azem F., Altarescu G., Renbaum P., Beeri R.,
RA   Varshaver I., Eldar-Geva T., Epsztejn-Litman S., Levy-Lahad E.,
RA   Eiges R.;
RT   "Female sex bias in human embryonic stem cell lines.";
RL   Stem Cells Dev. 21:363-372(2012).
//
RX   PubMed=26190529; DOI=10.1016/j.stemcr.2015.06.003; PMCID=PMC4618658;
RA   Yanovsky-Dagan S., Avitzour M., Altarescu G., Renbaum P.,
RA   Eldar-Geva T., Schonberger O., Mitrani-Rosenbaum S., Levy-Lahad E.,
RA   Birnbaum R.Y., Gepstein L., Epsztejn-Litman S., Eiges R.;
RT   "Uncovering the role of hypermethylation by CTG expansion in myotonic
RT   dystrophy type 1 using mutant human embryonic stem cells.";
RL   Stem Cell Reports 5:221-231(2015).
//