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Cellosaurus GM23617 (CVCL_BV87)

[Text version]
Cell line name GM23617
Accession CVCL_BV87
Resource Identification Initiative To cite this cell line use: GM23617 (RRID:CVCL_BV87)
Comments Population: Caucasian.
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[~750] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (Coriell=GM23617).
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 14Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23617
Encyclopedic resources Wikidata; Q54853155
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11