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Cellosaurus GM20215 (CVCL_DA85)

[Text version]
Cell line name GM20215
Accession CVCL_DA85
Resource Identification Initiative To cite this cell line use: GM20215 (RRID:CVCL_DA85)
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.Pro244Alafs*147 (c.728dupC) (ins723C); ClinVar=VCV000009880; Zygosity=Hemizygous or homozygous (Coriell=GM20215).
Disease Langer mesomelic dysplasia (NCIt: C126876)
Langer mesomelic dysplasia (ORDO: Orphanet_2632)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 65Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20215
Cell line databases/resources CLO; CLO_0027996
Encyclopedic resources Wikidata; Q54850847
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12