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Cellosaurus GM19903 (CVCL_F097)

[Text version]
Cell line name GM19903
Accession CVCL_F097
Resource Identification Initiative To cite this cell line use: GM19903 (RRID:CVCL_F097)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4162; GARS1; Simple; p.Gly294Arg (c.880G>C) (G240R); ClinVar=VCV000009204; Zygosity=Heterozygous (Coriell=GM19903).
Disease Charcot-Marie-Tooth disease type 2D (NCIt: C122659)
Autosomal dominant Charcot-Marie-Tooth disease type 2D (ORDO: Orphanet_99938)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 49Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM19903
Cell line databases/resources CLO; CLO_0028260
Encyclopedic resources Wikidata; Q54850740
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number16