ID   ND32974
AC   CVCL_EY88
DR   Coriell; ND32974
DR   NHCDR; ND32974
DR   Wikidata; Q54929632
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:9039; PLA2G6; Simple; p.Arg747Trp (c.2239C>T); ClinVar=VCV000006204; Zygosity=Homozygous (NHCDR=ND32974).
CC   Discontinued: Coriell; ND32974; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C201519; Parkinson disease 14, autosomal recessive
DI   ORDO; Orphanet_199351; Adult-onset dystonia-parkinsonism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   24Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 13
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