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Cellosaurus USFi002-A (CVCL_A6XE)

[Text version]

Cell line name USFi002-A
Synonyms 0AS1
Accession CVCL_A6XE
Resource Identification Initiative To cite this cell line use: USFi002-A (RRID:CVCL_A6XE)
Comments From: University of South Florida; Tampa; USA.
Population: African American.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 3756; FLNC; Simple; p.Asp2116Argfs*37 (c.6345_6352del); ClinVar=VCV000959711; Zygosity=Heterozygous (PubMed=34088019).
Disease Familial hypertrophic cardiomyopathy type 26 (NCIt: C179295)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
Publications

PubMed=34088019; DOI=10.1016/j.scr.2021.102394
Argenziano M.A., Burgos Angulo M., Beidokhti M.N., Yang J., Bertalovitz A.C., McDonald T.V.
Generation of a heterozygous FLNC mutation-carrying human iPSC line, USFi002-A, for modeling dilated cardiomyopathy.
Stem Cell Res. 53:102394-102394(2021)

Cross-references
Cell line databases/resources hPSCreg; USFi002-A
Biological sample resources BioSamples; SAMEA8445429
Other Wikidata; Q107117354
Entry history
Entry creation20-May-2021
Last entry update23-Sep-2021
Version number2