ID   SCVIi030-A
AC   CVCL_B7DZ
DR   BioSamples; SAMEA13252311
DR   hPSCreg; SCVIi030-A
DR   Wikidata; Q112930356
RX   PubMed=35700631;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9080; PLN; Simple; p.Arg14del (c.37_39AGA[1]) (c.40_42delAGA) (R14del); ClinVar=VCV000044580; Zygosity=Heterozygous (PubMed=35700631).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C173625; Dilated cardiomyopathy-1P
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35700631; DOI=10.1016/j.scr.2022.102834;
RA   Vera C.D., Manhas A., Shenoy S.P., Wheeler M.T., Sallam K., Wu J.C.;
RT   "Generation of two induced pluripotent stem cell lines carrying the
RT   phospholamban R14del mutation for modeling ARVD/C.";
RL   Stem Cell Res. 63:102834-102834(2022).
//