ID   NH50360
AC   CVCL_B6II
DR   NHCDR; NH50360
DR   Wikidata; Q112129456
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (NHCDR=NH50360).
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B6IJ ! NH50361
OI   CVCL_B6IK ! NH50362
SX   Male
AG   71Y8M
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 6
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