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Cellosaurus FAMRCi001-B (CVCL_VD62)

[Text version]
Cell line name FAMRCi001-B
Accession CVCL_VD62
Resource Identification Initiative To cite this cell line use: FAMRCi001-B (RRID:CVCL_VD62)
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 (from autologous cell line FAMRCi001-A).
  • Mutation; HGNC; HGNC:9024; PKP2; Simple; p.Lys859Arg (c.2576A>G); Zygosity=Heterozygous (from autologous cell line FAMRCi001-A).
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_QX88 ! FAMRCi001-A
Sex of cell Female
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

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-B
Biological sample resources BioSamples; SAMEA4675132
Encyclopedic resources Wikidata; Q54833242
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number13