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Cellosaurus NIAi001-D (CVCL_A8ZK)

[Text version]

Cell line name NIAi001-D
Synonyms A18945 LRRK2 G2019S PL2H7; G2019S PL2H7
Accession CVCL_A8ZK
Resource Identification Initiative To cite this cell line use: NIAi001-D (RRID:CVCL_A8ZK)
Comments Derived from sampling site: Umbilical cord blood.
Sequence variations Mutation; HGNC; 18618; LRRK2; Simple_edited; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34087985).
Disease Parkinson's disease (NCIt: C26845)
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
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-D
Entry history
Entry creation23-Sep-2021
Last entry update23-Sep-2021
Version number1