ID   UOXFi002-B
AC   CVCL_IJ05
SY   MK082-30
DR   BioSamples; SAMEA4458549
DR   EBiSC; UOXFi002-B
DR   ECACC; 66540389
DR   hPSCreg; UOXFi002-B
DR   Wikidata; Q54991437
CC   From: University of Oxford; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (EBiSC=UOXFi002-B).
CC   Discontinued: ECACC; 66540389; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A8Y8 ! MK082
SX   Male
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 30-01-24; Version: 15
//