ID   ICGi034-A
SY   PD30-4-7
DR   BioSamples; SAMEA10450936
DR   hPSCreg; ICGi034-A
DR   Wikidata; Q110432907
RX   PubMed=35007918;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4177; GBA; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=35007918).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_B5EL ! ICGi034-B
OI   CVCL_B5EM ! ICGi034-C
SX   Female
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 17-03-22; Version: 2
RX   PubMed=35007918; DOI=10.1016/j.scr.2021.102651;
RA   Grigor'eva E.V., Drozdova E.S., Sorogina D.A., Malakhova A.A.,
RA   Pavlova S.V., Vyatkin Y.V., Khabarova E.A., Rzaev J.A., Medvedev S.P.,
RA   Zakian S.M.;
RT   "Generation of induced pluripotent stem cell line, ICGi034-A, by
RT   reprogramming peripheral blood mononuclear cells from a patient with
RT   Parkinson's disease associated with GBA mutation.";
RL   Stem Cell Res. 59:102651-102651(2022).