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Cellosaurus ND40996 (CVCL_RY33)

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Cell line name ND40996
Accession CVCL_RY33
Resource Identification Initiative To cite this cell line use: ND40996 (RRID:CVCL_RY33)
Comments Population: Caucasian; Greek.
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 (NHCDR=ND40996).
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 Children:
CVCL_A8LW (LCSBi003-A)CVCL_A8LX (LCSBi003-B)CVCL_A8LY (LCSBi003-C)
CVCL_RY34 (ND50049)CVCL_RY35 (ND50050)CVCL_RY39 (ND50094)
Sex of cell Female
Age at sampling 51Y
Category Finite cell line
Publications

PubMed=34826737; DOI=10.1016/j.scr.2021.102600; PMCID=PMC9124237
Gabriela Novak, Steven Finkbeiner, Gaia Skibinski, Alexander Skupin;
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 collections (Providers) NHCDR; ND40996
Encyclopedic resources Wikidata; Q54930183
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number11