Cellosaurus logo
expasy logo

Cellosaurus GM05163 (CVCL_AW60)

[Text version]
Cell line name GM05163
Accession CVCL_AW60
Resource Identification Initiative To cite this cell line use: GM05163 (RRID:CVCL_AW60)
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[~340] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (Coriell=GM05163).
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_AW61 ! GM05164
Sex of cell Female
Age at sampling 36Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM05163
Cell line databases/resources CLO; CLO_0025253
Encyclopedic resources Wikidata; Q54838898
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11