ID   UOXFi008-A
AC   CVCL_LE40
SY   MK144-1
DR   BioSamples; SAMEA103887559
DR   EBiSC; UOXFi008-A
DR   ECACC; 66540550
DR   hPSCreg; UOXFi008-A
DR   Wikidata; Q54991458
CC   From: University of Oxford; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (EBiSC=UOXFi008-A).
CC   Discontinued: EBiSC; UOXFi008-A; true.
CC   Discontinued: ECACC; 66540550; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A8Y4 ! MK144
SX   Female
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 30-01-24; Version: 13
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