ID   GM04033
AC   CVCL_7405
SY   DMPK CTG1000; DMPK CTG(1000)
DR   CLO; CLO_0016231
DR   Coriell; GM04033
DR   Wikidata; Q54838376
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~1000] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (Coriell=GM04033).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84679; Dystrophia myotonica 1
DI   ORDO; Orphanet_273; Steinert myotonic dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F112 ! GM04034
SX   Male
AG   48Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 16
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//