ID   ICGi042-A
AC   CVCL_C1TN
SY   PD12-4Lm
DR   BioSamples; SAMEA110644571
DR   hPSCreg; ICGi042-A
DR   Wikidata; Q114311699
RX   DOI=10.1134/S106236042301006X;
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.Glu334Lys (c.1000G>A); ClinVar=VCV000039128; Zygosity=Heterozygous (DOI=10.1134/S106236042301006X).
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Ile723Val (c.2167A>G); ClinVar=VCV000039146; Zygosity=Heterozygous (DOI=10.1134/S106236042301006X).
CC   Sequence variation: Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Asn521Thr (c.1562A>C); ClinVar=VCV000295006; Zygosity=Heterozygous (DOI=10.1134/S106236042301006X).
CC   Omics: Genomics; Whole exome sequencing.
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_C1TP ! ICGi042-B
OI   CVCL_C1TQ ! ICGi042-C
SX   Male
AG   78Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 14-08-25; Version: 7
//
RX   DOI=10.1134/S106236042301006X;
RA   Grigor'eva, Elena V.
RA   Pavlova, Sofia V.
RA   Malakhova, Anastasia A.
RA   Medvedev, Sergey P.
RA   Minina, Julia M.
RA   Vyatkin, Yuri V.
RA   Khabarova, Elena A.
RA   Rzaev, Jamil A.
RA   Kovalenko, Liudmila V.
RA   Zakian, Suren Minasovich
RT   "Generation of an induced pluripotent stem cell line, ICGi042-A, by
RT   reprogramming peripheral blood mononuclear cells from a Parkinson's
RT   disease patient with c.1000G>A mutation in the LRRK2 gene.";
RL   Russ. J. Dev. Biol. 54:80-87(2023).
//