ID   SHEHDNi002-A
AC   CVCL_A3BX
SY   KY03AP
DR   BioSamples; SAMEA7895017
DR   hPSCreg; SHEHDNi002-A
DR   Wikidata; Q105511072
RX   PubMed=38219303;
CC   From: Department of Neurology, Shanghai East Hospital; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 15469; DNAJC6; Simple; p.Asn526Ser (c.1577A>G); ClinVar=VCV000706821; Zygosity=Heterozygous (PubMed=38219303).
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2385Arg (c.7153G>A); ClinVar=VCV000001943; Zygosity=Heterozygous (PubMed=38219303).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+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   Female
AG   68Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 02-05-24; Version: 6
//
RX   PubMed=38219303; DOI=10.1016/j.scr.2023.103297;
RA   Liu H., Zhao Z.-B., Zhao J., Xu L.-R., Li J.-S., Zhang B.;
RT   "Derivation of induced pluripotent stem cell SHEHDNi002-A from a
RT   68-year-old Chinese Han Parkinson's disease patient carrying LRRK2
RT   and DNAJC6 mutations.";
RL   Stem Cell Res. 75:103297-103297(2024).
//