ID   ICGi052-A
AC   CVCL_E9B7
SY   PD57-6
DR   BioSamples; SAMEA115761167
DR   hPSCreg; ICGi052-A
RX   PubMed=39722675;
RX   PubMed=40149527;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Asn279Lys (c.837T>G) (N596K, c.1788T>G or N614K, c.1842T>G); ClinVar=VCV000014253; Zygosity=Heterozygous (PubMed=39722675).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C217087; Frontotemporal dementia-1
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_E9B8 ! ICGi052-B
SX   Female
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 14-08-25; Last updated: 14-08-25; Version: 1
//
RX   PubMed=39722675; DOI=10.18699/vjgb-24-76; PMCID=PMC11668817;
RA   Grigor'eva, Elena V.
RA   Malakhova, Anastasia A.
RA   Yarkova, Elena S.
RA   Minina, Julia M.
RA   Vyatkin, Yuri V.
RA   Nadtochy, Julia A.
RA   Khabarova, Elena A.
RA   Rzaev, Jamil A.
RA   Medvedev, Sergey P.
RA   Zakian, Suren Minasovich
RT   "Generation and characterization of two induced pluripotent stem cell
RT   lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal
RT   dementia with parkinsonism-17 associated with the pathological
RT   variant c.2013T>G in the MAPT gene.";
RL   Vavilovskii Zhurnal Genet Selektsii 28:679-687(2024).
//
RX   PubMed=40149527; DOI=10.3390/biomedicines13030550; PMCID=PMC11940372;
RA   Nadtochy, Julia A.
RA   Medvedev, Sergey P.
RA   Grigor'eva, Elena V.
RA   Pavlova, Sofia V.
RA   Minina, Julia M.
RA   Chechushkov, Anton V.
RA   Malakhova, Anastasia A.
RA   Kovalenko, Liudmila V.
RA   Zakian, Suren Minasovich
RT   "Transgenic iPSC lines with genetically encoded MitoTimer to study
RT   mitochondrial biogenesis in dopaminergic neurons with tauopathy.";
RL   Biomedicines 13:550.1-550.18(2025).
//