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Cellosaurus GM03987 (CVCL_7404)

[Text version]
Cell line name GM03987
Accession CVCL_7404
Resource Identification Initiative To cite this cell line use: GM03987 (RRID:CVCL_7404)
Comments Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[~500] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (Coriell=GM03987).
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_F111 ! GM03986
Sex of cell Male
Age at sampling 39Y
Category Finite cell line
Publications

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

Cross-references
Cell line collections (Providers) Coriell; GM03987
Cell line databases/resources CLO; CLO_0016059
Encyclopedic resources Wikidata; Q54838357
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number14