ID   UMGi255-A
AC   CVCL_D6MD
SY   resDCM-634L-clone5
DR   BioSamples; SAMEA114347212
DR   hPSCreg; UMGi255-A
DR   Wikidata; Q127384594
RX   PubMed=38141360;
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 (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:27424; RBM20; Simple_edited; p.Arg634Leu (c.1901G>T); ClinVar=VCV000689585; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38141360).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C174435; Dilated cardiomyopathy-1DD
DI   NCIt; C99544; Left ventricular non-compaction syndrome
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
DI   ORDO; Orphanet_54260; Left ventricular noncompaction
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A9YR ! UMGi144-A-1
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38141360; DOI=10.1016/j.scr.2023.103290;
RA   Eberl H., Rebs S., Hoppe S., Sedaghat-Hamedani F., Kayvanpour E.,
RA   Meder B., Streckfuss-Bomeke K.;
RT   "Generation of an RBM20-mutation-associated left-ventricular
RT   non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM
RT   genetic background to investigate monogenetic cardiomyopathies.";
RL   Stem Cell Res. 74:103290-103290(2024).
//