ID   UOXFi003-B
AC   CVCL_WG64
SY   MK088-8
DR   hPSCreg; UOXFi003-B
DR   Wikidata; Q98134335
CC   From: University of Oxford; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A8Y9 ! MK088
SX   Male
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 10-04-25; Version: 13
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