ID   LCSBi008-A
AC   CVCL_C0J9
SY   DJ-1-delP; delP
DR   BioSamples; SAMEA13793746
DR   hPSCreg; LCSBi008-A
DR   Wikidata; Q112929992
RX   PubMed=35500378;
RX   PubMed=35617842;
CC   From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 16369; PARK7; Simple; p.Pro158del (c.471_473delGCC); ClinVar=VCV000987356; Zygosity=Homozygous (PubMed=35500378).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198606; Parkinson disease 7, autosomal recessive early-onset
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   66Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35500378; DOI=10.1016/j.scr.2022.102792;
RA   Mencke P., Boussaad I., Onal G., Kievit A.J.A., Boon A.J.W.,
RA   Mandemakers W., Bonifati V., Kruger R.;
RT   "Generation and characterization of a genetic Parkinson's
RT   disease-patient derived iPSC line DJ-1-delP (LCSBi008-A).";
RL   Stem Cell Res. 62:102792-102792(2022).
//
RX   PubMed=35617842; DOI=10.1016/j.scr.2022.102815;
RA   Mencke P., Hanss Z., Jarazo J., Massart F., Rybicki A., Petkovski E.,
RA   Glaab E., Boussaad I., Bonifati V., Schwamborn J.C., Mandemakers W.,
RA   Kruger R.;
RT   "Generation of isogenic control DJ-1-delP GC13 for the genetic
RT   Parkinson's disease-patient derived iPSC line DJ-1-delP
RT   (LCSBi008-A-1).";
RL   Stem Cell Res. 62:102815-102815(2022).
//