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Cellosaurus GM03991 (CVCL_X126)

[Text version]
Cell line name GM03991
Accession CVCL_X126
Resource Identification Initiative To cite this cell line use: GM03991 (RRID:CVCL_X126)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[50-80] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (Coriell=GM03991).
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_X125 ! GM03990
Sex of cell Female
Age at sampling 76Y
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 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; GM03991
Cell line databases/resources CLO; CLO_0016072
Encyclopedic resources Wikidata; Q54838362
Entry history
Entry creation17-Jul-2014
Last entry update30-Jan-2024
Version number12