ID   DANi002-A
AC   CVCL_XJ21
DR   hPSCreg; DANi002-A
DR   Wikidata; Q93503171
CC   From: Danish Research Institute of Translational Neuroscience, Aarhus University; Aarhus; Denmark.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (from autologous cell line DANi002-C).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_XJ22 ! DANi002-B
OI   CVCL_XJ23 ! DANi002-C
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 10-04-25; Version: 12
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