Cellosaurus cell line UCL-N001S (CVCL

Cross-references
Cell line name	UCL-N001S
Synonyms	N001S
Accession	CVCL_B7TA
Resource Identification Initiative	To cite this cell line use: UCL-N001S (RRID:CVCL_B7TA)
Comments	From: University College London; London; United Kingdom. Doubling time: 48 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.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Homozygous (PubMed=36130205).
Disease	Gaucher disease (NCIt: C61268) Gaucher disease (ORDO: Orphanet_355)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	58Y
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; Q112930504
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	8