ID   USFi002-A
AC   CVCL_A6XE
SY   0AS1
DR   BioSamples; SAMEA8445429
DR   hPSCreg; USFi002-A
DR   Wikidata; Q107117354
RX   PubMed=34088019;
CC   From: University of South Florida; Tampa; USA.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 3756; FLNC; Simple; p.Asp2116Argfs*37 (c.6345_6352delTGACAAGC); ClinVar=VCV000959711; Zygosity=Heterozygous (PubMed=34088019).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C179295; Familial hypertrophic cardiomyopathy type 26
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34088019; DOI=10.1016/j.scr.2021.102394;
RA   Argenziano M.A., Burgos Angulo M., Beidokhti M.N., Yang J.,
RA   Bertalovitz A.C., McDonald T.V.;
RT   "Generation of a heterozygous FLNC mutation-carrying human iPSC line,
RT   USFi002-A, for modeling dilated cardiomyopathy.";
RL   Stem Cell Res. 53:102394-102394(2021).
//