ID   HT809
AC   CVCL_F1KV
RX   PubMed=40667145;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Homozygous (PubMed=40667145).
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)
SX   Male
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
CH   CVCL_F1KW ! HT809-TH-tdTomato
//
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).
//