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Cellosaurus AG04475 (CVCL_X790)

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Cell line name AG04475
Accession CVCL_X790
Resource Identification Initiative To cite this cell line use: AG04475 (RRID:CVCL_X790)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~4000] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (Coriell=AG04475).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 57Y
Category Finite cell line
Publications

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994)

Cross-references
Cell line collections (Providers) Coriell; AG04475
Cell line databases/resources CLO; CLO_0034668
Encyclopedic resources Wikidata; Q54610267
Entry history
Entry creation05-Sep-2014
Last entry update19-Dec-2024
Version number13