Cellosaurus cell line CHOPHPS1 (CVCL

Cross-references
Cell line name	CHOPHPS1
Accession	CVCL_DQ88
Resource Identification Initiative	To cite this cell line use: CHOPHPS1 (RRID:CVCL_DQ88)
Comments	From: Children's Hospital of Philadelphia; Philadelphia; USA. Population: Puerto Rican. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:5163; HPS1; Simple; p.His497Glnfs*90 (c.1472_1487dup16); ClinVar=VCV000005277; Zygosity=Homozygous (PubMed=27345974).
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)
Hierarchy	Parent: CVCL_0R45 (GM14609)
Sex of cell	Female
Age at sampling	26Y
Category	Induced pluripotent stem cell
Publications	PubMed=27345974; DOI=10.1016/j.scr.2016.01.014 Maguire J.A., Lu L., Mills J.A., Sullivan L.M., Gagne A.L., Gadue P., French D.L. Generation of Hermansky-Pudlak syndrome type 1 (HPS1) induced pluripotent stem cells (iPSCs). Stem Cell Res. 16:233-235(2016)
Encyclopedic resources	Wikidata; Q54813221
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	11