ID   ND40067
AC   CVCL_EZ45
DR   Coriell; ND40067
DR   NHCDR; ND40067
DR   Wikidata; Q54930148
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; c.203_204delAG; Zygosity=Heterozygous (NHCDR=ND40067).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex4-7del; Zygosity=Heterozygous (NHCDR=ND40067).
CC   Discontinued: Coriell; ND40067; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   44Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 13
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