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Cellosaurus UPITTi002-A-1 (CVCL_C0EU)

[Text version]
Cell line name UPITTi002-A-1
Synonyms PLN-R9C
Accession CVCL_C0EU
Resource Identification Initiative To cite this cell line use: UPITTi002-A-1 (RRID:CVCL_C0EU)
Comments From: University of Pittsburgh; Pittsburgh; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9080; PLN; Simple_edited; p.Arg9Cys (c.25C>T); ClinVar=VCV000013636; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34583280).
Disease Dilated cardiomyopathy-1P (NCIt: C173625)
Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_C0ET (UPITTi002-A)
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=34583280; DOI=10.1016/j.scr.2021.102544; PMCID=PMC9699793
Robert J. Barndt, Ning Ma, Ying Tang, Michael P. Haugh, Laila S. Alamri, Stephen Y. Chan, Hao-Di Wu;
Modeling of dilated cardiomyopathy by establishment of isogenic human iPSC lines carrying phospholamban C25T (R9C) mutation (UPITTi002-A-1) using CRISPR/Cas9 editing.
Stem Cell Res. 56:102544-102544(2021)

Cross-references
Cell line databases/resources hPSCreg; UPITTi002-A-1
Encyclopedic resources Wikidata; Q112930525
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5