ID   SCVIi059-A
AC   CVCL_C1S6
SY   SCVIi2413
DR   BioSamples; SAMEA110696402
DR   hPSCreg; SCVIi059-A
DR   Wikidata; Q114312973
RX   PubMed=36194907;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 3756; FLNC; Simple; p.Arg2230His (c.6689G>A); ClinVar=VCV000567146; Zygosity=Heterozygous (PubMed=36194907).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84673; Dilated cardiomyopathy
DI   ORDO; Orphanet_217604; Dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 30-01-24; Version: 5
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RX   PubMed=36194907; DOI=10.1016/j.scr.2022.102928; PMCID=PMC10871033;
RA   Kojic A., Kim H., Guevara J.V., Ravada S., Sallam K., Wu J.C.;
RT   "Generation of two induced pluripotent stem cell lines from dilated
RT   cardiomyopathy patients carrying heterozygous FLNC mutations.";
RL   Stem Cell Res. 64:102928-102928(2022).
//