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Cellosaurus GM23645 (CVCL_BV95)

[Text version]
Cell line name GM23645
Accession CVCL_BV95
Resource Identification Initiative To cite this cell line use: GM23645 (RRID:CVCL_BV95)
Comments Population: Caucasian; German/Norwegian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~333] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (Coriell=GM23645).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 34Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23645
Encyclopedic resources Wikidata; Q54853181
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11