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Cellosaurus SCVIi073-A (CVCL_C6SK)

[Text version]
Cell line name SCVIi073-A
Synonyms SCVIi574C2
Accession CVCL_C6SK
Resource Identification Initiative To cite this cell line use: SCVIi073-A (RRID:CVCL_C6SK)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:939; BAG3; Simple; p.Tyr233Ter (c.699C>A); ClinVar=VCV000234982; Zygosity=Homozygous (PubMed=36642055).
  • Mutation; HGNC; HGNC:939; BAG3; Simple; p.Ala262Thr (c.784G>A); ClinVar=VCV000234983; Zygosity=Heterozygous (PubMed=36642055).
  • Mutation; HGNC; HGNC:12403; TTN; Simple; p.Leu3729Thrfs*9 (c.11183dupG) (p.Leu3557Thrfs*9, c.10670dupG); ClinVar=VCV000202507; Zygosity=Heterozygous (hPSCreg=SCVIi073-A).
Disease Dilated cardiomyopathy-1HH (NCIt: C192082)
Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 60Y
Category Induced pluripotent stem cell
Publications

PubMed=36642055; DOI=10.1016/j.scr.2023.103019; PMCID=PMC10042224
Zushin P.-J.H., Zhou Y., Li A., Ashley E.A., Wheeler M.T., Wu J.C.
Generation of two human iPSC lines with exon 3 mutations in BCL2-associated athanogene 3 (BAG3) from dilated cardiomyopathy patients.
Stem Cell Res. 67:103019-103019(2023)

Cross-references
Cell line databases/resources hPSCreg; SCVIi073-A
Biological sample resources BioSamples; SAMEA112228227
Encyclopedic resources Wikidata; Q117704859
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3