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Cellosaurus NIAi001-E (CVCL_A8ZL)

[Text version]
Cell line name NIAi001-E
Synonyms A18945 LRRK2 Y1699C PL3H2; Y1699C PL3H2
Accession CVCL_A8ZL
Resource Identification Initiative To cite this cell line use: NIAi001-E (RRID:CVCL_A8ZL)
Comments From: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health; Bethesda; USA.
Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
Sequence variations
  • Mutation; HGNC; HGNC:18618; LRRK2; Simple_edited; p.Tyr1699Cys (c.5096A>G); ClinVar=VCV000001937; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=34087985).
Disease Parkinson disease 8, autosomal dominant (NCIt: C198605)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_RM92 (CBiPSC6.2)
Sex of cell Female
Age at sampling <1D
Category Induced pluripotent stem cell
Publications

PubMed=34087985; DOI=10.1016/j.scr.2021.102354; PMCID=PMC8314873
Beylina A., Langston R.G., Rosen D., Reed X., Cookson M.R.
Generation of fourteen isogenic cell lines for Parkinson's disease-associated leucine-rich repeat kinase (LRRK2).
Stem Cell Res. 53:102354-102354(2021)

Cross-references
Cell line databases/resources hPSCreg; NIAi001-E
Encyclopedic resources Wikidata; Q108821033
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6