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Cellosaurus DCM iPSC clone 1 (CVCL_YT09)

[Text version]
Cell line name DCM iPSC clone 1
Accession CVCL_YT09
Resource Identification Initiative To cite this cell line use: DCM iPSC clone 1 (RRID:CVCL_YT09)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12403; TTN; Simple; p.Ser14450fs*4 (c.43628insAT); Zygosity=Heterozygous (PubMed=25759365).
Disease Dilated cardiomyopathy-1G (NCIt: C182078)
Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YT10 ! DCM iPSC clone 2
Sex of cell Female
Age at sampling 62Y
Category Induced pluripotent stem cell
Publications

PubMed=25759365; DOI=10.15252/emmm.201505047; PMCID=PMC4492817
Gramlich M., Pane L.S., Zhou Q.-F., Chen Z.-F., Murgia M., Schotterl S., Goedel A., Metzger K., Brade T., Parrotta E.I., Schaller M., Gerull B., Thierfelder L., Aartsma-Rus A., Labeit S., Atherton J.J., McGaughran J., Harvey R.P., Sinnecker D., Mann M., Laugwitz K.-L., Gawaz M.P., Moretti A.
Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.
EMBO Mol. Med. 7:562-576(2015)

Cross-references
Encyclopedic resources Wikidata; Q93504153
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9