Cellosaurus cell line CHOPHPS2 (CVCL

Cross-references
Cell line name	CHOPHPS2
Accession	CVCL_DQ89
Resource Identification Initiative	To cite this cell line use: CHOPHPS2 (RRID:CVCL_DQ89)
Comments	From: Children's Hospital of Philadelphia; Philadelphia; USA. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:566; AP3B1; Simple; p.Arg509Ter (c.1525C>T); ClinVar=VCV000006377; Zygosity=Heterozygous (PubMed=27345985). Mutation; HGNC; HGNC:566; AP3B1; Simple; p.Glu659Ter (c.1975G>T); ClinVar=VCV000006378; Zygosity=Heterozygous (PubMed=27345985).
Disease	Hermansky-Pudlak syndrome 2 (NCIt: C150368) Hermansky-Pudlak syndrome with neutropenia (ORDO: Orphanet_183678)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_0R47 (GM17890)
Sex of cell	Male
Age at sampling	4Y
Category	Induced pluripotent stem cell
Publications	PubMed=27345985; DOI=10.1016/j.scr.2016.01.015 Maguire J.A., Lu L., Mills J.A., Sullivan L.M., Gadue P., French D.L. Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs). Stem Cell Res. 16:287-289(2016)
Encyclopedic resources	Wikidata; Q54813222
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	14