ID   VUB19_DM1
AC   CVCL_9854
SY   VUBe019-A
DR   hPSCreg; VUBe019-A
DR   ISCR; 239
DR   SKIP; SKIP002028
DR   Wikidata; Q54993405
RX   PubMed=20224973;
CC   From: Vrije Universiteit Brussel; Brussels; Belgium.
CC   Sequence variation: Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[~250] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (PubMed=20224973).
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   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 29-06-23; Version: 17
RX   PubMed=20224973; DOI=10.1007/s11626-010-9284-4;
RA   Mateizel I., Spits C., De Rycke M., Liebaers I., Sermon K.;
RT   "Derivation, culture, and characterization of VUB hESC lines.";
RL   In Vitro Cell. Dev. Biol. Anim. 46:300-308(2010).