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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: Adipose mesenchymal stem cells.
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

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)

Cell line databases/resources hPSCreg; FAMRCi001-A
Biological sample resources BioSamples; SAMEA104387930
Other Wikidata; Q54833241
Entry history
Entry creation15-Nov-2017
Last entry update20-May-2021
Version number9