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; 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: 19-12-24; Version: 3
//
RX   PubMed=37748331; DOI=10.1016/j.scr.2023.103208;
RA   Balducci, Valentina
RA   Scardigli, Francesco
RA   Harakalova, Magdalena
RA   van Tintelen, J. Peter
RA   Doevendans, Pieter A.F.M.
RA   Costa, Kevin D.
RA   Turnbull, Irene C.
RA   Sluijter, Joost P.G.
RA   Stillitano, Francesca
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).
//