Cellosaurus cell line DCM iPSC clone 1 (CVCL

Cross-references
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 Michael Gramlich, Luna Simona Pane, Qi-Feng Zhou, Zhi-Fen Chen, Marta Murgia, Sonja Schotterl, Alexander Goedel, Katja Metzger, Thomas Brade, Elvira Immacolata Parrotta, Martin Schaller ...Show all 23 authors... , Brenda Gerull, Ludwig Thierfelder, Annemieke Aartsma-Rus, Siegfried Labeit, John J. Atherton, Julie McGaughran, Richard Paul Harvey, Daniel Sinnecker, Matthias Mann, Karl-Ludwig Laugwitz, Meinrad Paul Gawaz, Alessandra Moretti; Show fewer authors Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy. EMBO Mol. Med. 7:562-576(2015)
Encyclopedic resources	Wikidata; Q93504153
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	9