ID   LCSBi002-C
AC   CVCL_A8LV
SY   ND40066-PINK1/PARK6-ILE368ASN-clone 8; ND40066-PINK1-ILE368ASN-clone 8; ND40066-clone 8; ND40066-8
DR   BioSamples; SAMEA13151242
DR   hPSCreg; LCSBi002-C
DR   Wikidata; Q108820769
RX   PubMed=35378365;
CC   From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; p.Ile368Asn (c.1103T>A); dbSNP=rs774647122; Zygosity=Homozygous (PubMed=35378365).
CC   Omics: Array-based CGH.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C184990; Parkinson disease 6, early onset
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_EZ44 ! ND40066
SX   Male
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 30-01-24; Version: 7
//
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).
//