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 E.V., Pavlova S.V., Malakhova A.A., Yarkova E.S.,
RA   Sorogina D.A., Minina J.M., Miliukhina I.V., Nikolaev M.A.,
RA   Pchelina S.N., Medvedev S.P., Zakian S.M.;
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).
//