Cellosaurus cell line HT809-TH-tdTomato-LysoIP-MitoIP-GBA1 WT/WT + GPNMB KO (CVCL

Cellosaurus HT809-TH-tdTomato-LysoIP-MitoIP-GBA1 WT/WT + GPNMB KO (CVCL_F1L3)

Entry history
Cell line name	HT809-TH-tdTomato-LysoIP-MitoIP-GBA1 WT/WT + GPNMB KO
Synonyms	HT809-GBA1(WT/WT) + GPNMB KO
Accession	CVCL_F1L3
Resource Identification Initiative	To cite this cell line use: HT809-TH-tdTomato-LysoIP-MitoIP-GBA1 WT/WT + GPNMB KO (RRID:CVCL_F1L3)
Comments	Population: Jewish; Ashkenazi. Characteristics: Using CRISPR/Cas9 a P2-tdTomato constructs was inserted at the C-terminus of one allele of TH. This allows dopaminergic neurons differentiated from this cell line to express tdTomato and be readily identified (from parent cell line). Characteristics: Using TALEN a CAG driven construct containing TMEM192-mGFP-3xHA (LysoIP tag) and TOM20-mTagBFP-TwinStrep(2 copies of WSHPQFEK) (MitoIP tag) separated by a T2A self-cleavage peptide was inserted at one allele of the CLYBL locus (from parent cell line). Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:4462; GPNMB. Genetic integration: Method=CRISPR/Cas9; Gene=FPbase; PGG5S; tdTomato (Note=Bright red fluorescent protein derived from drFP583 (DsRed)). Genetic integration: Method=TALEN; Gene=FPbase; R9NL8; eGFP (Note=Enhanced GFP). Genetic integration: Method=TALEN; Gene=FPbase; BFJKS; TagBFP (Note=Blue fluorescent protein derived from eqFP578). Genetic integration: Method=TALEN; Gene=HGNC; HGNC:26775; TMEM192. Genetic integration: Method=TALEN; Gene=HGNC; HGNC:20947; TOM20. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4177; GBA1; Simple_corrected; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=40667145).
Disease	Gaucher disease (NCIt: C61268) Parkinson disease (NCIt: C26845) Gaucher disease (ORDO: Orphanet_355) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_F1KZ (HT809-TH-tdTomato-LysoIP-MitoIP-GBA1 WT/WT)
Sex of cell	Male
Age at sampling	65Y
Category	Induced pluripotent stem cell
Publications	PubMed=40667145; DOI=10.1101/2025.06.23.661126; PMCID=PMC12262256 Chase Chen, Charis Ma, Richard Sam, Jens Lichtenberg, Tiffany C. Chen, Ying Hao, Zi-Ywi Li, Isabelle Kowal, Katherine M. Andersh, Yue Andy Qi, Gani Perez ...Show all 21 authors... , Ellen Hertz, Yan Li, Darian Williams, Mark J. Henderson, Morgan Park, Xun-Tian Jiang, Pilar Alvarez Jerez, Cornelis Blauwendraat, Ellen Sidransky, Yu Chen; Show fewer authors Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by beta-glucocerebrosidase deficiency in GBA1 isogenic dopaminergic neurons from a patient with Gaucher disease and parkinsonism. bioRxiv 2025:06.23.661126-06.23.661126(2025)
Entry creation	27-Nov-2025
Last entry update	27-Nov-2025
Version number	1