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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 site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; 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 disease 8, autosomal dominant (NCIt: C198605)
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.-W., 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
Encyclopedic resources Wikidata; Q93503209
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number8