ID   SCVIi068-A
AC   CVCL_C4N4
SY   SCVI-715; SCVI 715; SCVI715
DR   hPSCreg; SCVIi068-A
DR   Wikidata; Q116050486
RX   PubMed=36270069;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple; p.Arg31606Ter (c.94816C>T); ClinVar=VCV000404748; Zygosity=Heterozygous (PubMed=36270069).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C182078; Dilated cardiomyopathy-1G
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 19-12-24; Version: 4
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RX   PubMed=36270069; DOI=10.1016/j.scr.2022.102941; PMCID=PMC9870071;
RA   Zhang T.T.-B., Zhao S.R., Alamana C., Shen M.-C., Parikh V., Wheeler M.T.,
RA   Wu J.C.;
RT   "Generation of two induced pluripotent stem cell lines from dilated
RT   cardiomyopathy patients carrying TTN mutations.";
RL   Stem Cell Res. 65:102941-102941(2022).
//