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Cellosaurus DANi004-A (CVCL_XJ24)

[Text version]
Cell line name DANi004-A
Synonyms DANi-004A; PRKN-004-C1
Accession CVCL_XJ24
Resource Identification Initiative To cite this cell line use: DANi004-A (RRID:CVCL_XJ24)
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; 8607; PRKN; Simple; p.Cys253Tyr (c.758G>A); ClinVar=VCV000645725; Zygosity=Homozygous (PubMed=31786474).
Disease Parkinson disease 2, autosomal recessive juvenile (NCIt: C198603)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 28Y
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; DANi004-A
Biological sample resources BioSamples; SAMEA5912473
Encyclopedic resources Wikidata; Q93503206
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7