ID   SCVIi049-A
AC   CVCL_B7SI
SY   SCVI-104; SCVI 104; SCVI104
DR   BioSamples; SAMEA14322389
DR   hPSCreg; SCVIi049-A
DR   Wikidata; Q112930366
RX   PubMed=35853412;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Sequence variation: Mutation; HGNC; 9080; PLN; Simple; p.Arg9Cys (c.25C>T); ClinVar=VCV000013636; Zygosity=Heterozygous (PubMed=35853412).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173625; Dilated cardiomyopathy-1P
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35853412; DOI=10.1016/j.scr.2022.102855;
RA   Caudal A., Mondejar-Parreno G., Vera C.D., Williams D.R., Shenoy S.P.,
RA   Liang D., Wu J.C.;
RT   "Generation of human induced pluripotent stem cell lines carrying
RT   heterozygous PLN mutation from dilated cardiomyopathy patients.";
RL   Stem Cell Res. 63:102855-102855(2022).
//