ID   ICGi034-A
AC   CVCL_B3RY
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; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=35007918).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
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: 10-04-25; Version: 7
//
RX   PubMed=35007918; DOI=10.1016/j.scr.2021.102651;
RA   Grigor'eva, Elena V.
RA   Drozdova, Elena S.
RA   Sorogina, Diana Aleksandrovna
RA   Malakhova, Anastasia Aleksandrovna
RA   Pavlova, Sofia V.
RA   Vyatkin, Yuri V.
RA   Khabarova, Elena A.
RA   Rzaev, Jamil A.
RA   Medvedev, Sergey P.
RA   Zakian, Suren Minasovich
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).
//