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Cellosaurus SCVIi068-A (CVCL_C4N4)

[Text version]
Cell line name SCVIi068-A
Synonyms SCVI-715; SCVI 715; SCVI715
Accession CVCL_C4N4
Resource Identification Initiative To cite this cell line use: SCVIi068-A (RRID:CVCL_C4N4)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 12403; TTN; Simple; p.Arg31606Ter (c.94816C>T); ClinVar=VCV000404748; Zygosity=Heterozygous (PubMed=36270069).
Disease Dilated cardiomyopathy-1G (NCIt: C182078)
Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 59Y
Category Induced pluripotent stem cell
Publications

PubMed=36270069; DOI=10.1016/j.scr.2022.102941
Zhang T.T.-B., Zhao S.R., Alamana C., Shen M.-C., Parikh V., Wheeler M.T., Wu J.C.
Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying TTN mutations.
Stem Cell Res. 65:102941-102941(2022)

Cross-references
Cell line databases/resources hPSCreg; SCVIi068-A
Encyclopedic resources Wikidata; Q116050486
Entry history
Entry creation15-Dec-2022
Last entry update29-Jun-2023
Version number3