ID   DANi006-A
AC   CVCL_YJ49
DR   hPSCreg; DANi006-A
DR   Wikidata; Q93503212
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 DANi006-F).
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_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YJ50 ! DANi006-B
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: 10-04-25; Version: 13
//