Cellosaurus cell line SANi009-A (CVCL

Cross-references
Cell line name	SANi009-A
Synonyms	PBL.HPS241.cl2; HPS2-90; HPS2 clone 2
Accession	CVCL_A0JY
Resource Identification Initiative	To cite this cell line use: SANi009-A (RRID:CVCL_A0JY)
Comments	From: Sanquin; Amsterdam; Netherlands. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:566; AP3B1; Simple; p.Lys59Asnfs*5 (c.177delA); ClinVar=VCV000224763; Zygosity=Heterozygous (PubMed=34182253). Mutation; HGNC; HGNC:566; AP3B1; Simple; c.1839_1842delTAGA; ClinVar=VCV000224764; Zygosity=Heterozygous (PubMed=34182253).
Disease	Hermansky-Pudlak syndrome 2 (NCIt: C150368) Hermansky-Pudlak syndrome with neutropenia (ORDO: Orphanet_183678)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=34182253; DOI=10.1016/j.scr.2021.102444 Cathelijn E.M. Aarts, Ellie Karampini, Tatjana Wust, Steven Webbers, Eszter Varga, Judy Geissler, Jan Voorberg, Marieke von Lindern, Ruben Bierings, Emile van den Akker, Taco W. Kuijpers; Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1. Stem Cell Res. 54:102444-102444(2021)
Cell line databases/resources	hPSCreg; SANi009-A
Encyclopedic resources	Wikidata; Q108821263
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5