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Cellosaurus GM20254 (CVCL_CV45)

[Text version]
Cell line name GM20254
Accession CVCL_CV45
Resource Identification Initiative To cite this cell line use: GM20254 (RRID:CVCL_CV45)
Comments Population: African American.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8918; PHEX; Simple; p.Leu650Arg (c.1949T>G); Zygosity=Heterozygous (from familial inference of GM20255).
Disease X-linked dominant hypophosphatemic rickets (NCIt: C85234)
X-linked hypophosphatemia (ORDO: Orphanet_89936)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 32Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20254
Cell line databases/resources CLO; CLO_0027839
Encyclopedic resources Wikidata; Q54850872
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number10