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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 site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; 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.-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; DANi002-C
Biological sample resources BioSamples; SAMEA5912470
Encyclopedic resources Wikidata; Q93503177
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number9