ID   ISMMSi053-A
AC   CVCL_D0GH
SY   aPLN-R14del-2AC4
DR   BioSamples; SAMEA113606544
DR   hPSCreg; ISMMSi053-A
DR   Wikidata; Q123032751
RX   PubMed=37748331;
CC   From: Icahn School of Medicine at Mount Sinai; New York; 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=37748331).
CC   Donor information: At sampling donor was asymptomatic for cardiomyopathy.
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   Male
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37748331; DOI=10.1016/j.scr.2023.103208;
RA   Balducci V., Scardigli F., Harakalova M., van Tintelen J.P.,
RA   Doevendans P.A.F.M., Costa K.D., Turnbull I.C., Sluijter J.P.G.,
RA   Stillitano F.;
RT   "Generation and characterization of novel human induced pluripotent
RT   stem cell (iPSC) lines originating from five asymptomatic individuals
RT   carrying the PLN-R14del pathogenic variant and a non-carrier
RT   relative.";
RL   Stem Cell Res. 72:103208-103208(2023).
//