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Cellosaurus GM04647 (CVCL_AW55)

[Text version]
Cell line name GM04647
Accession CVCL_AW55
Resource Identification Initiative To cite this cell line use: GM04647 (RRID:CVCL_AW55)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~1000] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (Coriell=GM04647).
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_AW56 ! GM04648
Sex of cell Male
Age at sampling 23Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM04647
Cell line databases/resources CLO; CLO_0018966
Encyclopedic resources Wikidata; Q54838618
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number10