ID   ND50053
AC   CVCL_QX28
DR   NHCDR; ND50053
DR   Wikidata; Q54930275
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (NHCDR=ND50053).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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_DD50 ! ND29802
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 13
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