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Cellosaurus GM20214 (CVCL_DA84)

[Text version]
Cell line name GM20214
Accession CVCL_DA84
Resource Identification Initiative To cite this cell line use: GM20214 (RRID:CVCL_DA84)
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:10853; SHOX; Simple; p.Arg153Cys (c.457C>T); Zygosity=Heterozygous (Coriell=GM20214).
  • Mutation; HGNC; HGNC:10853; SHOX; Simple; p.Val163Phe (c.487G>T); Zygosity=Heterozygous (Coriell=GM20214).
Disease Langer mesomelic dysplasia (NCIt: C126876)
Langer mesomelic dysplasia (ORDO: Orphanet_2632)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 84Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20214
Cell line databases/resources CLO; CLO_0028000
Encyclopedic resources Wikidata; Q54850846
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12