ID   UMGi144-A
AC   CVCL_A9YQ
SY   DCM-R634W
DR   hPSCreg; UMGi144-A
DR   Wikidata; Q102115075
RX   PubMed=32674065;
CC   From: University Medical Center Goettingen; Goettingen; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 27424; RBM20; Simple; p.Arg634Trp (c.1900C>T); ClinVar=VCV000411653; Zygosity=Heterozygous (PubMed=32674065).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C174435; Dilated cardiomyopathy-1DD
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=32674065; DOI=10.1016/j.scr.2020.101901;
RA   Rebs S., Sedaghat-Hamedani F., Kayvanpour E., Meder B.,
RA   Streckfuss-Bomeke K.;
RT   "Generation of pluripotent stem cell lines and CRISPR/Cas9 modified
RT   isogenic controls from a patient with dilated cardiomyopathy harboring
RT   a RBM20 p.R634W mutation.";
RL   Stem Cell Res. 47:101901-101901(2020).
//