ID   NH50346
AC   CVCL_B6I5
DR   NHCDR; NH50346
DR   Wikidata; Q112129441
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous (NHCDR=NH50346).
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B6I4 ! NH50345
OI   CVCL_B6I6 ! NH50347
SX   Male
AG   55Y2M
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 6
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