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Cellosaurus NIAi002-A-2 (CVCL_D0K1)

[Text version]
Cell line name NIAi002-A-2
Synonyms Iso-WT SNCA 40760 PL3B3
Accession CVCL_D0K1
Resource Identification Initiative To cite this cell line use: NIAi002-A-2 (RRID:CVCL_D0K1)
Comments From: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health; Bethesda; USA.
Sequence variations
  • Mutation; HGNC; HGNC:11138; SNCA; Simple_corrected; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37229975).
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_D0JY (NIAi002-A)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=37229975; DOI=10.1016/j.scr.2023.103125; PMCID=PMC10411637
Kozhushko N., Beilina A., Cookson M.R.
Generation of gene-corrected isogenic controls from Parkinson's disease patient iPSC lines carrying the pathogenic SNCA p.A53T variant.
Stem Cell Res. 69:103125-103125(2023)

Cross-references
Cell line databases/resources hPSCreg; NIAi002-A-2
Encyclopedic resources Wikidata; Q123033180
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3