ID   SCVIi060-A
AC   CVCL_C1S7
SY   SCVi2506
DR   BioSamples; SAMEA110696403
DR   hPSCreg; SCVIi060-A
DR   Wikidata; Q114312974
RX   PubMed=36194907;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3756; FLNC; Simple; p.Asp1249Asn (c.3745G>A); ClinVar=VCV000539405; 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   35Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 30-01-24; Version: 5
//
RX   PubMed=36194907; DOI=10.1016/j.scr.2022.102928;
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).
//