ID   ICGi043-A
AC   CVCL_C3RW
SY   LR-21
DR   BioSamples; SAMEA111344463
DR   hPSCreg; ICGi043-A
DR   Wikidata; Q117704514
RX   DOI=10.1134/S1062360423010058;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (DOI=10.1134/S1062360423010058).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C3RX ! ICGi043-B
OI   CVCL_C3RY ! ICGi043-C
SX   Female
AG   74Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
//
RX   DOI=10.1134/S1062360423010058;
RA   Grigor'eva, Elena V.
RA   Pavlova, Sofia V.
RA   Malakhova, Anastasia A.
RA   Yarkova, Elena S.
RA   Sorogina, Diana Aleksandrovna
RA   Minina, Julia M.
RA   Miliukhina, Irina V.
RA   Nikolaev, Mikhael A.
RA   Pchelina, Sofya N.
RA   Medvedev, Sergey P.
RA   Zakian, Suren Minasovich
RT   "Generation of an induced pluripotent stem cell line, ICGi043-A, by
RT   reprogramming peripheral blood mononuclear cells from a Parkinson's
RT   disease patient with p.G2019S mutation in the LRRK2 gene.";
RL   Russ. J. Dev. Biol. 54:72-79(2023).
//