ID   DANi006-B
AC   CVCL_YJ50
DR   hPSCreg; DANi006-B
DR   Wikidata; Q93503215
CC   From: Danish Research Institute of Translational Neuroscience, Aarhus University; Aarhus; Denmark.
CC   Sequence variation: Mutation; HGNC; 4177; GBA; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (from autologous cell line).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_YJ49 ! DANi006-A
OI   CVCL_YJ51 ! DANi006-C
OI   CVCL_YJ52 ! DANi006-D
OI   CVCL_YJ53 ! DANi006-E
OI   CVCL_YJ54 ! DANi006-F
SX   Female
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 23-06-22; Version: 8
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