Cellosaurus cell line HPM clone #3 (CVCL

Cellosaurus HPM clone #3 (CVCL_E7FW)

Entry history
Cell line name	HPM clone #3
Synonyms	HP proMastocyte clone #3
Accession	CVCL_E7FW
Resource Identification Initiative	To cite this cell line use: HPM clone #3 (RRID:CVCL_E7FW)
Comments	Doubling time: 3-4 days (DOI=10.1016/j.jaci.2012.12.1081; PubMed=27459687). 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)
Originate from same individual	CVCL_E7FX ! HPM clone #4
Sex of cell	Male
Age at sampling	24-47Y
Category	Spontaneously immortalized cell line
Publications	DOI=10.1016/j.jaci.2012.12.1081 Kirshenbaum A.S., Desai A., Bandara G., Cruse G., Fischer E.R., Gilfillan A.M., Gahl W.A., Metcalfe D.D. Establishment of the Hermansky Pudlak mastocyte (HPM) cell line which has the HPS1 16-bp duplication (c.1470_1486dup16). J. Allergy Clin. Immunol. 131 Suppl. 2:AB115-AB115(2013) 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