ID   ND38477
AC   CVCL_Y812
DR   Coriell; ND38477
DR   NHCDR; ND38477
DR   SKIP; SKIP001371
DR   SKIP; SKIP004702
DR   Wikidata; Q54930063
RX   PubMed=27264186;
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Asn52Metfs*29 (c.155delA) (255delA); ClinVar=VCV000536457; Zygosity=Heterozygous (Coriell=ND38477).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex3-4del; Zygosity=Heterozygous (Coriell=ND38477).
CC   Discontinued: Coriell; ND38477; 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)
HI   CVCL_Y811 ! ND29543
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 16
//
RX   PubMed=27264186; DOI=10.1016/j.celrep.2016.05.022;
RA   Lin L., Goke J., Cukuroglu E., Dranias M.R., VanDongen A.M.J.,
RA   Stanton L.W.;
RT   "Molecular features underlying neurodegeneration identified through in
RT   vitro modeling of genetically diverse Parkinson's disease patients.";
RL   Cell Rep. 15:2411-2426(2016).
//