ID   ND41010
AC   CVCL_EZ68
DR   Coriell; ND41010
DR   NHCDR; ND41010
DR   Wikidata; Q54930189
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Arg246Ter (c.736C>T); ClinVar=VCV000002407; Zygosity=Homozygous (NHCDR=ND41010).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex4-6del; Zygosity=Heterozygous (NHCDR=ND41010).
CC   Discontinued: Coriell; ND41010; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C184990; Parkinson disease 6, early onset
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   58Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 13
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