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Cellosaurus FAMRCi001-A (CVCL_QX88)

[Text version]

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 sampling site: Cell type=Adipose mesenchymal stem cell.
Sequence variations
  • Mutation; HGNC; 9024; PKP2; Simple; p.Tyr119Metfs*23 (c.354delT); Zygosity=Heterozygous (PubMed=29034900).
  • Mutation; 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
Khudiakov A., Kostina D., Zlotina A., Yany N., Sergushichev A., Pervunina T., Tomilin A., Kostareva A., Malashicheva A.
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
Khudiakov A.A., Smolina N.A., Perepelina K.I., Malashicheva A.B., Kostareva A.A.
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 update16-Dec-2021
Version number10