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Cellosaurus GM13958 (CVCL_0R43)

[Text version]
Cell line name GM13958
Accession CVCL_0R43
Resource Identification Initiative To cite this cell line use: GM13958 (RRID:CVCL_0R43)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:5163; HPS1; Simple; p.Gln397Serfs*2 (c.1189delC); ClinVar=VCV000021091; Zygosity=Homozygous (Coriell=GM13958).
Disease Hermansky-Pudlak syndrome 1 (NCIt: C150367)
Hermansky-Pudlak syndrome with pulmonary fibrosis (ORDO: Orphanet_231500)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM13958
Cell line databases/resources CLO; CLO_0033844
Encyclopedic resources Wikidata; Q54846949
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14