Cellosaurus logo
expasy logo

Cellosaurus GM04033 (CVCL_7405)

[Text][XML][JSON]
Cell line name GM04033
Synonyms DMPK CTG1000; DMPK CTG(1000)
Accession CVCL_7405
Resource Identification Initiative To cite this cell line use: GM04033 (RRID:CVCL_7405)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~1000] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (Coriell=GM04033).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_F112 ! GM04034
Sex of cell Male
Age at sampling 48Y
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM04033
Cell line databases/resources CLO; CLO_0016231
Encyclopedic resources Wikidata; Q54838376
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number16