ID   A53T
AC   CVCL_E3C7
RX   PubMed=35688132;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PubMed=35688132).
CC   Donor information: Established from a Contursi kindred patient.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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)
SX   Female
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=35688132; DOI=10.1016/j.cell.2022.05.008; PMCID=PMC9394447;
RA   Hallacli E., Kayatekin C., Nazeen S., Wang X.-H., Sheinkopf Z.,
RA   Sathyakumar S., Sarkar S., Jiang X., Dong X.-J., Di Maio R., Wang W.,
RA   Keeney M.T., Felsky D., Sandoe J., Vahdatshoar A., Udeshi N.D., Mani D.R.,
RA   Carr S.A., Lindquist S.L., De Jager P.L., Bartel D.P., Myers C.L.,
RA   Greenamyre J.T., Feany M.B., Sunyaev S.R., Chung C.-Y., Khurana V.;
RT   "The Parkinson's disease protein alpha-synuclein is a modulator of
RT   processing bodies and mRNA stability.";
RL   Cell 185:2035-2056.e33(2022).
//