ID   LCSBi004-A
SY   ND29369-PARKIN/PRKN/PARK2-R275W-clone 1; ND29369-PARKIN/PARK2-R275W-clone 1; ND29369-clone 1; ND29369-1
DR   hPSCreg; LCSBi004-A
DR   Wikidata; Q108820773
RX   PubMed=35378365;
CC   From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
CC   Population: Latino or Hispanic; Dominican.
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=35378365).
CC   Omics: Array-based CGH.
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_DD48 ! ND29369
SX   Female
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 21-03-23; Version: 5
RX   PubMed=35378365; DOI=10.1016/j.scr.2022.102765;
RA   Novak G., Finkbeiner S., Skibinski G., Bernini M., Donato C.,
RA   Skupin A.;
RT   "Generation of two human induced pluripotent stem cell lines from
RT   fibroblasts of Parkinson's disease patients carrying the ILE368ASN
RT   mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin
RT   (LCSBI004).";
RL   Stem Cell Res. 61:102765-102765(2022).