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Cellosaurus FAMRCi009-A (CVCL_B5H7)

[Text version]
Cell line name FAMRCi009-A
Synonyms RCMP43
Accession CVCL_B5H7
Resource Identification Initiative To cite this cell line use: FAMRCi009-A (RRID:CVCL_B5H7)
Comments From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3756; FLNC; Simple; p.Val2297Met (c.6889G>A) (p.Val2264Met, c.6790G>A); ClinVar=VCV000641618; Zygosity=Heterozygous (PubMed=34971933).
Disease Familial restrictive cardiomyopathy 5 (NCIt: C183309)
Familial isolated restrictive cardiomyopathy (ORDO: Orphanet_75249)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell

PubMed=34971933; DOI=10.1016/j.scr.2021.102640
Rodina N., Khudiakov A.A., Perepelina K.I., Muravyev A., Boytsov A., Zlotina A., Sokolnikova P., Kostareva A.A.
Generation of iPSC line (FAMRCi009-A) from patient with familial progressive cardiac conduction disorder carrying genetic variant FLNC p.Val2264Met.
Stem Cell Res. 59:102640-102640(2022)

Cell line databases/resources hPSCreg; FAMRCi009-A
Biological sample resources BioSamples; SAMEA9687263
Encyclopedic resources Wikidata; Q110432798
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4