ID   ISMMSi044-A
AC   CVCL_C0FZ
SY   PLN-R14del-1BC1; PLNR14del-1BC1
DR   BioSamples; SAMEA10977552
DR   hPSCreg; ISMMSi044-A
DR   Wikidata; Q112929877
RX   PubMed=35247838;
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=35247838).
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   56Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35247838; DOI=10.1016/j.scr.2022.102737;
RA   Mittal N., Dave J., Harakalova M., van Tintelen J.P., Asselbergs F.W.,
RA   Doevendans P.A.F.M., Costa K.D., Turnbull I.C., Stillitano F.;
RT   "Generation of human induced pluripotent stem cell (iPSC) lines
RT   derived from five patients carrying the pathogenic
RT   phospholamban-R14del (PLN-R14del) variant and three non-carrier family
RT   members.";
RL   Stem Cell Res. 60:102737-102737(2022).
//