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Cellosaurus FAMRCi001-A (CVCL_QX88)

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Cell line name FAMRCi001-A
Accession CVCL_QX88
Resource Identification Initiative To cite this cell line use: FAMRCi001-A (RRID:CVCL_QX88)
Comments From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
Population: Caucasian.
Derived from site: In situ; Adipose tissue; UBERON=UBERON_0001013.
Cell type: Mesenchymal stem cell of adipose tissue; CL=CL_0002570.
Sequence variations
  • Mutation; HGNC; HGNC:9024; PKP2; Simple; p.Tyr119Metfs*23 (c.354delT); Zygosity=Heterozygous (PubMed=29034900).
  • Mutation; HGNC; HGNC:9024; PKP2; Simple; p.Lys859Arg (c.2576A>G); Zygosity=Heterozygous (PubMed=29034900).
Disease Familial arrhythmogenic right ventricular dysplasia 9 (NCIt: C173471)
Familial isolated arrhythmogenic right ventricular dysplasia (ORDO: Orphanet_217656)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_VD62 ! FAMRCi001-B
Sex of cell Female
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=29034900; DOI=10.1016/j.scr.2017.08.014
Aleksandr A. Khudiakov, Daria Kostina, Anna Zlotina, Natalia Yany, Alexey Sergushichev, Tatiana M. Pervunina, Alexey Nikolayevich Tomilin, Anna A. Kostareva, Anna B. Malashicheva;
Generation of iPSC line from patient with arrhythmogenic right ventricular cardiomyopathy carrying mutations in PKP2 gene.
Stem Cell Res. 24:85-88(2017)

PubMed=31221065; DOI=10.1134/S000629791903009X
Aleksandr A. Khudiakov, Natalia A. Smolina, Kseniya I. Perepelina, Anna B. Malashicheva, Anna A. Kostareva;
Extracellular microRNAs and mitochondrial DNA as potential biomarkers of arrhythmogenic cardiomyopathy.
Biochemistry (Mosk.) 84:272-282(2019)

Cross-references
Cell line databases/resources hPSCreg; FAMRCi001-A
Biological sample resources BioSamples; SAMEA104387930
Encyclopedic resources Wikidata; Q54833241
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number14