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Cellosaurus DANi002-C (CVCL_XJ23)

[Text version]

Cell line name DANi002-C
Synonyms DANi-002C; GBA-002-C3
Accession CVCL_XJ23
Resource Identification Initiative To cite this cell line use: DANi002-C (RRID:CVCL_XJ23)
Comments From: Danish Research Institute of Translational Neuroscience, Aarhus University; Aarhus; Denmark.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 4177; GBA; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; 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)
Originate from same individual CVCL_XJ21 ! DANi002-A
CVCL_XJ22 ! DANi002-B
Sex of cell Male
Age at sampling 50Y
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; DANi002-C
Biological sample resources BioSamples; SAMEA5912470
Encyclopedic resources Wikidata; Q93503177
Entry history
Entry creation19-Dec-2019
Last entry update17-Mar-2022
Version number6