Cellosaurus cell line HT809 (CVCL

Cellosaurus HT809 (CVCL_F1KV)

[Text][XML][JSON]

Cell line name

HT809

Accession

CVCL_F1KV

Resource Identification Initiative

To cite this cell line use: HT809 (RRID:CVCL_F1KV)

Comments

Population: Jewish; Ashkenazi.
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; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Homozygous (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

Children:

CVCL_F1KW (HT809-TH-tdTomato)

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 history

Entry creation

27-Nov-2025

Last entry update

27-Nov-2025

Version number