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Cellosaurus DANi006-F (CVCL_YJ54)

[Text version]
Cell line name DANi006-F
Synonyms DANi-006F; GBA-006-C6
Accession CVCL_YJ54
Resource Identification Initiative To cite this cell line use: DANi006-F (RRID:CVCL_YJ54)
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)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YJ49 ! DANi006-A
CVCL_YJ50 ! DANi006-B
CVCL_YJ51 ! DANi006-C
CVCL_YJ52 ! DANi006-D
CVCL_YJ53 ! DANi006-E
Sex of cell Female
Age at sampling 39Y
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; DANi006-F
Biological sample resources BioSamples; SAMEA5912477
Encyclopedic resources Wikidata; Q93503228
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number10