ID   ULUNDi008-A
AC   CVCL_YC61
SY   CSC-32B; CSC-32
DR   hPSCreg; ULUNDi008-A
DR   Wikidata; Q98134025
RX   PubMed=31954327;
CC   From: University of Lund; Lund; Sweden.
CC   Sequence variation: Mutation; HGNC; HGNC:11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PubMed=31954327).
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)
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=31954327; DOI=10.1016/j.scr.2019.101694;
RA   Azevedo C., Chumarina M., Serafimova E., Goldwurm S., Collin A.,
RA   Roybon L., Savchenko E., Pomeshchik Y.;
RT   "Generation of an induced pluripotent stem cell line (CSC-32) from a
RT   patient with Parkinson's disease carrying a heterozygous variation
RT   p.A53T in the SNCA gene.";
RL   Stem Cell Res. 43:101694-101694(2020).
//