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Cellosaurus ICGi052-B (CVCL_E9B8)

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Cell line name ICGi052-B
Synonyms PD57-7
Accession CVCL_E9B8
Resource Identification Initiative To cite this cell line use: ICGi052-B (RRID:CVCL_E9B8)
Comments From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • 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).
Disease Frontotemporal dementia-1 (NCIt: C217087)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_E9B9 (ICGi052-B-1)CVCL_E9BA (ICGi052-B-2)
Originate from same individual CVCL_E9B7 ! ICGi052-A
Sex of cell Female
Age at sampling 46Y
Category Induced pluripotent stem cell
Publications

PubMed=39722675; DOI=10.18699/vjgb-24-76; PMCID=PMC11668817
Elena V. Grigor'eva, Anastasia A. Malakhova, Elena S. Yarkova, Julia M. Minina, Yuri V. Vyatkin, Julia A. Nadtochy, Elena A. Khabarova, Jamil A. Rzaev, Sergey P. Medvedev, Suren Minasovich Zakian;
Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated with the pathological variant c.2013T>G in the MAPT gene.
Vavilovskii Zhurnal Genet Selektsii 28:679-687(2024)

PubMed=40149527; DOI=10.3390/biomedicines13030550; PMCID=PMC11940372
Julia A. Nadtochy, Sergey P. Medvedev, Elena V. Grigor'eva, Sofia V. Pavlova, Julia M. Minina, Anton V. Chechushkov, Anastasia A. Malakhova, Liudmila V. Kovalenko, Suren Minasovich Zakian;
Transgenic iPSC lines with genetically encoded MitoTimer to study mitochondrial biogenesis in dopaminergic neurons with tauopathy.
Biomedicines 13:550.1-550.18(2025)

Cross-references
Cell line databases/resources hPSCreg; ICGi052-B
Biological sample resources BioSamples; SAMEA115767763
Entry history
Entry creation14-Aug-2025
Last entry update14-Aug-2025
Version number1