ID   DCM iPSC clone 1
AC   CVCL_YT09
DR   Wikidata; Q93504153
RX   PubMed=25759365;
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple; p.Ser14450fs*4 (c.43628insAT); Zygosity=Heterozygous (PubMed=25759365).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C182078; Dilated cardiomyopathy-1G
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YT10 ! DCM iPSC clone 2
SX   Female
AG   62Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
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RX   PubMed=25759365; DOI=10.15252/emmm.201505047; PMCID=PMC4492817;
RA   Gramlich M., Pane L.S., Zhou Q.-F., Chen Z.-F., Murgia M., Schotterl S.,
RA   Goedel A., Metzger K., Brade T., Parrotta E.I., Schaller M., Gerull B.,
RA   Thierfelder L., Aartsma-Rus A., Labeit S., Atherton J.J.,
RA   McGaughran J., Harvey R.P., Sinnecker D., Mann M., Laugwitz K.-L.,
RA   Gawaz M.P., Moretti A.;
RT   "Antisense-mediated exon skipping: a therapeutic strategy for
RT   titin-based dilated cardiomyopathy.";
RL   EMBO Mol. Med. 7:562-576(2015).
//