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Cellosaurus LCSBi003-B (CVCL_A8LX)

[Text version]
Cell line name LCSBi003-B
Synonyms ND40996-PARK1/SNCA-A53T-clone 7; ND40996-SNCA-A53T-clone 7; ND40996-clone 7
Accession CVCL_A8LX
Resource Identification Initiative To cite this cell line use: LCSBi003-B (RRID:CVCL_A8LX)
Comments From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
Population: Caucasian; Greek.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (from parent cell line).
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)

Cross-references
Cell line databases/resources hPSCreg; LCSBi003-B
Encyclopedic resources Wikidata; Q108820771
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number4