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Cellosaurus FAMRCi010-A (CVCL_B5H6)

[Text version]
Cell line name FAMRCi010-A
Synonyms RCMP48
Accession CVCL_B5H6
Resource Identification Initiative To cite this cell line use: FAMRCi010-A (RRID:CVCL_B5H6)
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.Gly2011Arg (c.6031G>A); ClinVar=VCV000472122; Zygosity=Heterozygous (PubMed=34971931).
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 Female
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=34971931; DOI=10.1016/j.scr.2021.102639
Perepelina K.I., Khudiakov A.A., Rodina N., Boytsov A., Vavilova T., Zlotina A., Sokolnikova P., Kostareva A.A.
Generation of iPSC line FAMRCi010-A from patient with restrictive cardiomyopathy carrying genetic variant FLNC p.Gly2011Arg.
Stem Cell Res. 59:102639-102639(2022)

Cross-references
Cell line databases/resources hPSCreg; FAMRCi010-A
Biological sample resources BioSamples; SAMEA9687265
Encyclopedic resources Wikidata; Q110432799
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4