ID   ND50085
AC   CVCL_RY36
DR   NHCDR; ND50085
DR   Wikidata; Q54930313
RX   PubMed=34434090;
CC   Population: Caucasian; Greek.
CC   Sequence variation: Mutation; HGNC; HGNC:11138; SNCA; Simple_corrected; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=ND50085).
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_RY35 ! ND50050
SX   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 12
//
RX   PubMed=34434090; DOI=10.3389/fnmol.2021.734273; PMCID=PMC8381147;
RA   Nguyen D., Bharat V., Conradson D.M., Nandakishore P., Wang X.-N.;
RT   "Miro1 impairment in a Parkinson's at-risk cohort.";
RL   Front. Mol. Neurosci. 14:734273.1-734273.8(2021).
//