ID   LCSBi013-A
AC   CVCL_D0HL
SY   GL2; iPSC F0245 CL1_1
DR   BioSamples; SAMEA113634167
DR   hPSCreg; LCSBi013-A
DR   Wikidata; Q123032942
RX   PubMed=37832355;
CC   From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=37832355).
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=37832355).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37832355; DOI=10.1016/j.scr.2023.103212;
RA   Oleksy C., Massart F., Goldwurm S., Arado A., Arena G., Boussaad I.,
RA   Kruger R.;
RT   "Generation and characterization of induced pluripotent stem cells
RT   from a Parkinson's disease patient carrying the digenic LRRK2
RT   p.G2019S and GBA1 p.N409S mutations.";
RL   Stem Cell Res. 72:103212-103212(2023).
//