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Cellosaurus DANi006-E (CVCL_YJ53)

[Text version]
Cell line name DANi006-E
Accession CVCL_YJ53
Resource Identification Initiative To cite this cell line use: DANi006-E (RRID:CVCL_YJ53)
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 (from autologous cell line DANi006-F).
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_YJ54 ! DANi006-F
Sex of cell Female
Age at sampling 39Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; DANi006-E
Encyclopedic resources Wikidata; Q93503225
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number11