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Cellosaurus UCSFi001-A-65 (CVCL_C1XL)

[Text version]
Cell line name UCSFi001-A-65
Synonyms iPSC-RBM20 R634Q
Accession CVCL_C1XL
Resource Identification Initiative To cite this cell line use: UCSFi001-A-65 (RRID:CVCL_C1XL)
Comments Population: Japanese.
Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:27424; RBM20; Simple_edited; p.Arg634Gln (c.1901G>A); ClinVar=VCV000000269; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32905764).
Disease Dilated cardiomyopathy-1DD (NCIt: C174435)
Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_Y803 (GM25256)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=32905764; DOI=10.1016/j.celrep.2020.108117; PMCID=PMC8168789
Francesca Briganti, Han Sun, Wu Wei, Jing-Yan Wu, Chen-Chen Zhu, Martin Liss, Ioannis Karakikes, Shannon Rego, Andrea Cipriano, Michael P. Snyder, Benjamin Meder ...Show all 16 authors... , Zhen-Yu Xu, Gilles Millat, Michael Gotthardt, Mark Mercola, Lars M. Steinmetz; Show fewer authors
iPSC modeling of RBM20-deficient DCM identifies upregulation of RBM20 as a therapeutic strategy.
Cell Rep. 32:108117.1-108117.15(2020)

Cross-references
Cell line databases/resources hPSCreg; UCSFi001-A-65
Biological sample resources BioSamples; SAMEA12399777
Encyclopedic resources Wikidata; Q114313153
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5