ID   NH50142
AC   CVCL_UW93
DR   NHCDR; NH50142
DR   Wikidata; Q98127566
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple_corrected; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50142).
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_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_RH37 ! ND50043
SX   Male
AG   63Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 10-04-25; Version: 11
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