ID   HPM clone #4-HPS1
AC   CVCL_E7FY
RX   PubMed=27459687;
CC   Characteristics: Transduction of HPS1 reduces and nearly normalizes the secretion of IL6 and IL8, but not CSF2 or TNF (PubMed=27459687).
CC   Sequence variation: Mutation; HGNC; HGNC:5163; HPS1; Simple; p.His497Glnfs*90 (c.1472_1487dup16); ClinVar=VCV000005277; Zygosity=Homozygous (DOI=10.1016/j.jaci.2012.12.1081).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:5163; HPS1.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Mast cell; CL=CL_0000097.
DI   NCIt; C150367; Hermansky-Pudlak syndrome 1
DI   ORDO; Orphanet_231500; Hermansky-Pudlak syndrome with pulmonary fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_E7FX ! HPM clone #4
SX   Male
AG   24-47Y
CA   Spontaneously immortalized cell line
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=27459687; DOI=10.1371/journal.pone.0159177; PMCID=PMC4961407;
RA   Kirshenbaum A.S., Cruse G., Desai A., Bandara G., Leerkes M.R.,
RA   Lee C.-C.R., Fischer E.R., O'Brien K.J., Gochuico B.R., Stone K.D.,
RA   Gahl W.A., Metcalfe D.D.;
RT   "Immunophenotypic and ultrastructural analysis of mast cells in
RT   Hermansky-Pudlak syndrome type-1: a possible connection to pulmonary
RT   fibrosis.";
RL   PLoS ONE 11:e0159177.1-e0159177.23(2016).
//