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Cellosaurus FAMRCi011-A (CVCL_B5H4)

[Text version]
Cell line name FAMRCi011-A
Synonyms ARVC51
Accession CVCL_B5H4
Resource Identification Initiative To cite this cell line use: FAMRCi011-A (RRID:CVCL_B5H4)
Comments From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
Population: Caucasian.
Omics: Array-based CGH.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3756; FLNC; Simple; p.Arg1267Gln (c.3800G>A); ClinVar=VCV000539409; Zygosity=Heterozygous (hPSCreg=FAMRCi011-A).
Disease Familial restrictive cardiomyopathy 5 (NCIt: C183309)
Familial isolated restrictive cardiomyopathy (ORDO: Orphanet_75249)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_B5H5 ! FAMRCi011-B
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; FAMRCi011-A
Biological sample resources BioSamples; SAMEA9687267
Encyclopedic resources Wikidata; Q110432800
Entry history
Entry creation16-Dec-2021
Last entry update02-May-2024
Version number4