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Cellosaurus SCVIi060-A (CVCL_C1S7)

[Text version]
Cell line name SCVIi060-A
Synonyms SCVi2506
Accession CVCL_C1S7
Resource Identification Initiative To cite this cell line use: SCVIi060-A (RRID:CVCL_C1S7)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3756; FLNC; Simple; p.Asp1249Asn (c.3745G>A); ClinVar=VCV000539405; Zygosity=Heterozygous (PubMed=36194907).
Disease Dilated cardiomyopathy (NCIt: C84673)
Dilated cardiomyopathy (ORDO: Orphanet_217604)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 35Y
Category Induced pluripotent stem cell
Publications

PubMed=36194907; DOI=10.1016/j.scr.2022.102928; PMCID=PMC10871033
Kojic A., Kim H., Guevara J.V., Ravada S., Sallam K., Wu J.C.
Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying heterozygous FLNC mutations.
Stem Cell Res. 64:102928-102928(2022)

Cross-references
Cell line databases/resources hPSCreg; SCVIi060-A
Biological sample resources BioSamples; SAMEA110696403
Encyclopedic resources Wikidata; Q114312974
Entry history
Entry creation22-Sep-2022
Last entry update30-Jan-2024
Version number5