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Cellosaurus GM04602 (CVCL_Y794)

[Text version]
Cell line name GM04602
Accession CVCL_Y794
Resource Identification Initiative To cite this cell line use: GM04602 (RRID:CVCL_Y794)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[~1700] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (from autologous cell line GM06077).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C9J1 (CBRCULi013-A)CVCL_Y801 (GM24559)
Originate from same individual CVCL_Y800 ! GM06077
Sex of cell Female
Age at sampling 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM04602
Cell line databases/resources CLO; CLO_0018907
Encyclopedic resources Wikidata; Q54838588
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number10