Cellosaurus cell line UCL-E001K (CVCL

Cross-references
Cell line name	UCL-E001K
Synonyms	E001K
Accession	CVCL_B7T9
Resource Identification Initiative	To cite this cell line use: UCL-E001K (RRID:CVCL_B7T9)
Comments	From: University College London; London; United Kingdom. Doubling time: 72 hours (Direct_author_submission). Miscellaneous: Doubling time information from personal communication of Koletsi, Sofia. 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.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous (PubMed=36130205).
Disease	Parkinson's disease (NCIt: C26845) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	50Y
Category	Finite cell line
Publications	PubMed=36130205; DOI=10.1093/hmg/ddac233; PMCID=PMC9941838 Smith L.J., Bolsinger M.M., Chau K.-Y., Gegg M.E., Schapira A.H.V. The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines. Hum. Mol. Genet. 32:773-789(2023)
Encyclopedic resources	Wikidata; Q112930503
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	8