ID   UMi036-A
AC   CVCL_C0Z1
DR   BioSamples; SAMEA112445420
DR   hPSCreg; UMi036-A
DR   Wikidata; Q114313195
CC   From: Miller School of Medicine, University of Miami; Miami; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Homozygous (from parent cell line).
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_EY99 ! ND34263
SX   Male
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 05-10-23; Version: 4
//