Cellosaurus cell line FAMRCi011-A (CVCL

Cross-references
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; HGNC:3756; FLNC; Simple; p.Arg1267Gln (c.3800G>A); ClinVar=VCV000539409; Zygosity=Heterozygous (PubMed=39315490).
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
Publications	PubMed=39315490; DOI=10.1002/cm.21922 Klimenko E.S., Zaytseva A.K., Sorokina M.Y., Perepelina K.I., Rodina N.L., Nikitina E.G., Sukhareva K.S., Khudiakov A.A., Vershinina T.L., Muravyev A.S., Mikhaylov E.N., Pervunina T.M., Vasichkina E.S., Kostareva A.A. Distinct molecular features of FLNC mutations, associated with different clinical phenotypes. Cytoskeleton 0:0-0(2024)
Cell line databases/resources	hPSCreg; FAMRCi011-A
Biological sample resources	BioSamples; SAMEA9687267
Encyclopedic resources	Wikidata; Q110432800
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5