Cellosaurus cell line LCSBi003-A (CVCL

Cross-references
Cell line name	LCSBi003-A
Synonyms	ND40996-PARK1/SNCA-A53T-clone 1; ND40996-SNCA-A53T-clone 1; ND40996-clone 1
Accession	CVCL_A8LW
Resource Identification Initiative	To cite this cell line use: LCSBi003-A (RRID:CVCL_A8LW)
Comments	From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg. Population: Caucasian; Greek. Omics: Array-based CGH. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PubMed=34826737).
Disease	Parkinson disease 1, autosomal dominant (NCIt: C198602) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_RY33 (ND40996)
Sex of cell	Female
Age at sampling	51Y
Category	Induced pluripotent stem cell
Publications	PubMed=34826737; DOI=10.1016/j.scr.2021.102600; PMCID=PMC9124237 Novak G., Finkbeiner S., Skibinski G., Skupin A. Generation of two human induced pluripotent stem cell lines (iPSCs) with mutations of the alpha-synuclein (SNCA) gene associated with Parkinson's disease; the A53T mutation (LCSBi003) and a triplication of the SNCA gene (LCSBi007). Stem Cell Res. 57:102600-102600(2021)
Cell line databases/resources	hPSCreg; LCSBi003-A
Encyclopedic resources	Wikidata; Q108820770
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5