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Cellosaurus DANi005-A (CVCL_XJ25)

[Text version]

Cell line name DANi005-A
Synonyms DANi-005A; LRRK2-GBA-005-C1
Accession CVCL_XJ25
Resource Identification Initiative To cite this cell line use: DANi005-A (RRID:CVCL_XJ25)
Comments From: Danish Research Institute of Translational Neuroscience, Aarhus University; Aarhus; Denmark.
Derived from sampling site: Skin.
Sequence variations Mutation; HGNC; 4177; GBA; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=31786474).
Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=31786474).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 66Y
Category Induced pluripotent stem cell
Publications

PubMed=31786474; DOI=10.1016/j.scr.2019.101657
Chen M., Maimaitili M., Buchholdt S.H., Jensen U.B., Febbraro F., Denham M.
Generation of eight human induced pluripotent stem cell lines from Parkinson's disease patients carrying familial mutations.
Stem Cell Res. 42:101657-101657(2020)

Cross-references
Cell line databases/resources hPSCreg; DANi005-A
Biological sample resources BioSamples; SAMEA5912475
Other Wikidata; Q93503209
Entry history
Entry creation19-Dec-2019
Last entry update20-May-2021
Version number4