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Cellosaurus FAMRCi009-A (CVCL_B5H7)

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Cell line name FAMRCi009-A
Synonyms RCMP43
Accession CVCL_B5H7
Resource Identification Initiative To cite this cell line use: FAMRCi009-A (RRID:CVCL_B5H7)
Comments From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3756; FLNC; Simple; p.Val2297Met (c.6889G>A) (p.Val2264Met, c.6790G>A); ClinVar=VCV000641618; Zygosity=Heterozygous (PubMed=34971933).
Disease Familial restrictive cardiomyopathy 5 (NCIt: C183309)
Familial isolated restrictive cardiomyopathy (ORDO: Orphanet_75249)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=34971933; DOI=10.1016/j.scr.2021.102640
Nataliia L. Rodina, Aleksandr A. Khudiakov, Kseniya I. Perepelina, Aleksei S. Muravyev, Aleksandr Boytsov, Anna Zlotina, Polina Sokolnikova, Anna A. Kostareva;
Generation of iPSC line (FAMRCi009-A) from patient with familial progressive cardiac conduction disorder carrying genetic variant FLNC p.Val2264Met.
Stem Cell Res. 59:102640-102640(2022)

PubMed=39315490; DOI=10.1002/cm.21922
Ekaterina Sergeevna Klimenko, Anastasia K. Zaytseva, Margarita Y. Sorokina, Kseniya I. Perepelina, Nataliia L. Rodina, E.G. Nikitina, Ksenia S. Sukhareva, Aleksandr A. Khudiakov, Tatiana L. Vershinina, Aleksei S. Muravyev, Evgeny N. Mikhaylov ...Show all 14 authors... , Tatiana M. Pervunina, Elena S. Vasichkina, Anna A. Kostareva; Show fewer authors
Distinct molecular features of FLNC mutations, associated with different clinical phenotypes.
Cytoskeleton 82:158-174(2025)

Cross-references
Cell line databases/resources hPSCreg; FAMRCi009-A
Biological sample resources BioSamples; SAMEA9687263
Encyclopedic resources Wikidata; Q110432798
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5