Cellosaurus logo
expasy logo

Cellosaurus UMGi144-A (CVCL_A9YQ)

[Text version]
Cell line name UMGi144-A
Synonyms DCM-R634W
Accession CVCL_A9YQ
Resource Identification Initiative To cite this cell line use: UMGi144-A (RRID:CVCL_A9YQ)
Comments From: University Medical Center Goettingen; Goettingen; Germany.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 27424; RBM20; Simple; p.Arg634Trp (c.1900C>T); ClinVar=VCV000411653; Zygosity=Heterozygous (PubMed=32674065).
Disease Dilated cardiomyopathy-1DD (NCIt: C174435)
Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A9YR (UMGi144-A-1)
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=32674065; DOI=10.1016/j.scr.2020.101901
Rebs S., Sedaghat-Hamedani F., Kayvanpour E., Meder B., Streckfuss-Bomeke K.
Generation of pluripotent stem cell lines and CRISPR/Cas9 modified isogenic controls from a patient with dilated cardiomyopathy harboring a RBM20 p.R634W mutation.
Stem Cell Res. 47:101901-101901(2020)

Cross-references
Cell line databases/resources hPSCreg; UMGi144-A
Encyclopedic resources Wikidata; Q102115075
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number5