ID   HPM clone #4
AC   CVCL_E7FX
SY   HP proMastocyte clone #4
RX   DOI=10.1016/j.jaci.2012.12.1081;
RX   PubMed=27459687;
CC   Doubling time: 3-4 days (DOI=10.1016/j.jaci.2012.12.1081; 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   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)
OI   CVCL_E7FW ! HPM clone #3
SX   Male
AG   24-47Y
CA   Spontaneously immortalized cell line
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   DOI=10.1016/j.jaci.2012.12.1081;
RA   Kirshenbaum A.S., Desai A., Bandara G., Cruse G., Fischer E.R.,
RA   Gilfillan A.M., Gahl W.A., Metcalfe D.D.;
RT   "Establishment of the Hermansky Pudlak mastocyte (HPM) cell line which
RT   has the HPS1 16-bp duplication (c.1470_1486dup16).";
RL   J. Allergy Clin. Immunol. 131 Suppl. 2:AB115-AB115(2013).
//
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).
//