Cellosaurus cell line HPM clone #4-HPS1 (CVCL

Entry history
Cell line name	HPM clone #4-HPS1
Accession	CVCL_E7FY
Resource Identification Initiative	To cite this cell line use: HPM clone #4-HPS1 (RRID:CVCL_E7FY)
Comments	Characteristics: Transduction of HPS1 reduces and nearly normalizes the secretion of IL6 and IL8, but not CSF2 or TNF (PubMed=27459687). Genetic integration: Method=Transduction; Gene=HGNC; HGNC:5163; HPS1. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. Cell type: Mast cell; CL=CL_0000097.
Sequence variations	Mutation; HGNC; HGNC:5163; HPS1; Simple; p.His497Glnfs*90 (c.1472_1487dup16); ClinVar=VCV000005277; Zygosity=Homozygous (DOI=10.1016/j.jaci.2012.12.1081).
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)
Hierarchy	Parent: CVCL_E7FX (HPM clone #4)
Sex of cell	Male
Age at sampling	24-47Y
Category	Spontaneously immortalized cell line
Publications	PubMed=27459687; DOI=10.1371/journal.pone.0159177; PMCID=PMC4961407 Kirshenbaum A.S., Cruse G., Desai A., Bandara G., Leerkes M.R., Lee C.-C.R., Fischer E.R., O'Brien K.J., Gochuico B.R., Stone K.D., Gahl W.A., Metcalfe D.D. Immunophenotypic and ultrastructural analysis of mast cells in Hermansky-Pudlak syndrome type-1: a possible connection to pulmonary fibrosis. PLoS ONE 11:e0159177.1-e0159177.23(2016)
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1