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Cellosaurus UMGi255-A (CVCL_D6MD)

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Cell line name UMGi255-A
Synonyms resDCM-634L-clone5
Accession CVCL_D6MD
Resource Identification Initiative To cite this cell line use: UMGi255-A (RRID:CVCL_D6MD)
Comments Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:27424; RBM20; Simple_corrected; p.Arg634Trp (c.1900C>T); ClinVar=VCV000411653; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (from parent cell line).
  • Mutation; HGNC; HGNC:27424; RBM20; Simple_edited; p.Arg634Leu (c.1901G>T); ClinVar=VCV000689585; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38141360).
Disease Dilated cardiomyopathy-1DD (NCIt: C174435)
Left ventricular non-compaction syndrome (NCIt: C99544)
Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Left ventricular noncompaction (ORDO: Orphanet_54260)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A9YR (UMGi144-A-1)
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=38141360; DOI=10.1016/j.scr.2023.103290
Hanna Eberl, Sabine Rebs, Stefanie Hoppe, Farbod Sedaghat-Hamedani, Elham Kayvanpour, Benjamin Meder, Katrin Streckfuss-Bomeke;
Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies.
Stem Cell Res. 74:103290-103290(2024)

Cross-references
Cell line databases/resources hPSCreg; UMGi255-A
Biological sample resources BioSamples; SAMEA114347212
Encyclopedic resources Wikidata; Q127384594
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3