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Cellosaurus USFi002-A (CVCL_A6XE)

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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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3756; FLNC; Simple; p.Asp2116Argfs*37 (c.6345_6352delTGACAAGC); 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
Mariana A. Argenziano, Mariana Burgos Angulo, Maliheh Najari Beidokhti, Jia-Jia Yang, Alexander C. Bertalovitz, Thomas V. McDonald;
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
Encyclopedic resources Wikidata; Q107117354
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5