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; 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: 19-12-24; Version: 5
//
RX   PubMed=35853412; DOI=10.1016/j.scr.2022.102855; PMCID=PMC9681708;
RA   Caudal, Arianne
RA   Mondejar-Parreno, Gema
RA   Vera, Carlos D.
RA   Williams, Damon R.
RA   Shenoy, Sushma P.
RA   Liang, David
RA   Wu, Joseph 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).
//