ID   ND50050
AC   CVCL_RY35
DR   NHCDR; ND50050
DR   Wikidata; Q54930272
RX   PubMed=34831478;
CC   Population: Caucasian; Greek.
CC   Sequence variation: Mutation; HGNC; 11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198602; Parkinson disease 1, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_RY33 ! ND40996
SX   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 05-10-23; Version: 10
//
RX   PubMed=34831478; DOI=10.3390/cells10113256;
RA   Vogiatzis S., Celestino M., Trevisan M., Magro G., Del Vecchio C.,
RA   Erdengiz D., Palu G., Parolin C., Maguire-Zeiss K., Calistri A.;
RT   "Lentiviral vectors expressing chimeric NEDD4 ubiquitin ligases: an
RT   innovative approach for interfering with alpha-synuclein
RT   accumulation.";
RL   Cells 10:3256.1-3256.21(2021).
//