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 Arnold S. Kirshenbaum, Avanti Desai, Geethani Bandara, Glenn Cruse, Elizabeth R. Fischer, Alasdair M. Gilfillan, William A. Gahl, Dean D. Metcalfe; 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:AB115.418-AB115.418(2013) PubMed=27459687; DOI=10.1371/journal.pone.0159177; PMCID=PMC4961407 Arnold S. Kirshenbaum, Glenn Cruse, Avanti Desai, Geethani Bandara, Maarten Rudolph Leerkes, Chyi-Chia Richard Lee, Elizabeth R. Fischer, Kevin J. O'Brien, Bernadette Ruzol Gochuico, Kelly D. Stone, William A. Gahl, Dean D. Metcalfe; 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