ID   NH50187
AC   CVCL_UW89
DR   NHCDR; NH50187
DR   Wikidata; Q98127628
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (NHCDR=NH50187).
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple_corrected; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50187).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61268; Gaucher disease
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_355; Gaucher disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_UW86 ! NH50182
SX   Male
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 10
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