ID   ICGi052-B-1
AC   CVCL_E9B9
SY   PD57-7 MT8
DR   BioSamples; SAMEA117400231
DR   hPSCreg; ICGi052-B-1
RX   PubMed=40149527;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Characteristics: Upon doxycycline induction expresses a MitoTimer biosensor. MitoTimer is a DsRed-Timer protein fused to the transit peptide of COX18 so as to target it to the mitochondrial matrix (PubMed=40149527; DOI=10.3390/biomedicines13030550; PMCID=PMC11940372).
CC   Characteristics: Using CRISPR/Cas9 a Neo-M2rtTA construct and a Puro-TRE-mCMV-MitoTimer were introduced at the AAVS1 safe harbor locus (PubMed=40149527).
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=40149527).
CC   Genetic integration: Method=CRISPR/Cas9; Gene=FPbase; 55DQE; DsRed-Timer.
CC   Genetic integration: Method=CRISPR/Cas9; Gene=UniProtKB; P04483; Escherichia coli Tn10 tetR.
CC   Genetic integration: Method=CRISPR/Cas9; Gene=UniProtKB; P06492; Human herpesvirus 1 (HHV-1) VP16 (UL28) (Note=With p.Met1_Arg360del).
CC   Genetic integration: Method=CRISPR/Cas9; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
CC   Genetic integration: Method=CRISPR/Cas9; Gene=UniProtKB; P13249; Streptomyces alboniger pac (PuroR).
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)
HI   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=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).
//