ID   NH50350
AC   CVCL_B6I9
DR   NHCDR; NH50350
DR   Wikidata; Q112129445
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (NHCDR=NH50350).
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B6I7 ! NH50348
OI   CVCL_B6I8 ! NH50349
SX   Female
AG   67Y2M
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 10-04-25; Version: 7
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