ID   UMGi144-A-1
AC   CVCL_A9YR
SY   rescueDCM-iPSC; rescue-DCM
DR   hPSCreg; UMGi144-A-1
DR   Wikidata; Q102115076
RX   PubMed=32674065;
CC   From: University Medical Center Goettingen; Goettingen; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:27424; RBM20; Simple_corrected; p.Arg634Trp (c.1900C>T); ClinVar=VCV000411653; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (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)
HI   CVCL_A9YQ ! UMGi144-A
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
CH   CVCL_D6MD ! UMGi255-A
//
RX   PubMed=32674065; DOI=10.1016/j.scr.2020.101901;
RA   Rebs, Sabine
RA   Sedaghat-Hamedani, Farbod
RA   Kayvanpour, Elham
RA   Meder, Benjamin
RA   Streckfuss-Bomeke, Katrin
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).
//