ID   UOXFi001-D
AC   CVCL_EE30
SY   MK071-6; iPS.MK071.6
DR   BioSamples; SAMEA4454476
DR   EBiSC; UOXFi001-D
DR   ECACC; 66540387
DR   hPSCreg; UOXFi001-D
DR   SKIP; SKIP002857
DR   Wikidata; Q54991435
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=UOXFi001-D).
CC   Discontinued: EBiSC; UOXFi001-D; true.
CC   Discontinued: ECACC; 66540387; 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_A8Z6 ! MK071
SX   Female
AG   81Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 15
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