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Cellosaurus GM12928 (CVCL_N198)

[Text version]
Cell line name GM12928
Synonyms GM17079
Accession CVCL_N198
Resource Identification Initiative To cite this cell line use: GM12928 (RRID:CVCL_N198)
Comments Part of: Human variation panel.
Population: Puerto Rican.
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.His497Glnfs*90 (c.1472_1487dup16); ClinVar=VCV000005277; Zygosity=Homozygous (Coriell=GM12928).
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 35Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM12928
Coriell; GM17079
Cell line databases/resources CLO; CLO_0014613
CLO; CLO_0022924
Encyclopedic resources Wikidata; Q54846235
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number16