ID   HT809-TH-tdTomato-LysoIP-MitoIP
AC   CVCL_F1KX
SY   HT809-TH-tdTomato-LysoIP-MitoIP-GBA1 N370S/N370S; HT809-GBA1(N370S/N370S)
RX   PubMed=40667145;
CC   Population: Jewish; Ashkenazi.
CC   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).
CC   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 (PubMed=40667145).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Homozygous (PubMed=40667145).
CC   Genetic integration: Method=CRISPR/Cas9; Gene=FPbase; PGG5S; tdTomato (Note=Bright red fluorescent protein derived from drFP583 (DsRed)).
CC   Genetic integration: Method=TALEN; Gene=FPbase; R9NL8; eGFP (Note=Enhanced GFP).
CC   Genetic integration: Method=TALEN; Gene=FPbase; BFJKS; TagBFP (Note=Blue fluorescent protein derived from eqFP578).
CC   Genetic integration: Method=TALEN; Gene=HGNC; HGNC:26775; TMEM192.
CC   Genetic integration: Method=TALEN; Gene=HGNC; HGNC:20947; TOM20.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61268; Gaucher disease
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_355; Gaucher disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F1KW ! HT809-TH-tdTomato
SX   Male
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
CH   CVCL_F1L5 ! HT809-TH-tdTomato-LysoIP-MitoIP + GPNMB KO
CH   CVCL_F1KY ! HT809-TH-tdTomato-LysoIP-MitoIP-GBA1 KO/KO
CH   CVCL_F1KZ ! HT809-TH-tdTomato-LysoIP-MitoIP-GBA1 WT/WT
//
RX   PubMed=40667145; DOI=10.1101/2025.06.23.661126; PMCID=PMC12262256;
RA   Chen, Chase
RA   Ma, Charis
RA   Sam, Richard
RA   Lichtenberg, Jens
RA   Chen, Tiffany C.
RA   Hao, Ying
RA   Li, Zi-Ywi
RA   Kowal, Isabelle
RA   Andersh, Katherine M.
RA   Qi, Yue Andy
RA   Perez, Gani
RA   Hertz, Ellen
RA   Li, Yan
RA   Williams, Darian
RA   Henderson, Mark J.
RA   Park, Morgan
RA   Jiang, Xun-Tian
RA   Alvarez Jerez, Pilar
RA   Blauwendraat, Cornelis
RA   Sidransky, Ellen
RA   Chen, Yu
RT   "Bidirectional regulation of glycoprotein nonmetastatic melanoma
RT   protein B by beta-glucocerebrosidase deficiency in GBA1 isogenic
RT   dopaminergic neurons from a patient with Gaucher disease and
RT   parkinsonism.";
RL   bioRxiv 2025:06.23.661126-06.23.661126(2025).
//