ID   UPITTi002-A-1
AC   CVCL_C0EU
SY   PLN-R9C
DR   hPSCreg; UPITTi002-A-1
DR   Wikidata; Q112930525
RX   PubMed=34583280;
CC   From: University of Pittsburgh; Pittsburgh; USA.
CC   Sequence variation: Mutation; HGNC; 9080; PLN; Simple_edited; p.Arg9Cys (c.25C>T); ClinVar=VCV000013636; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34583280).
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)
HI   CVCL_C0ET ! UPITTi002-A
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34583280; DOI=10.1016/j.scr.2021.102544;
RA   Barndt R.J., Ma N., Tang Y., Haugh M.P., Alamri L.S., Chan S.Y.,
RA   Wu H.-D.;
RT   "Modeling of dilated cardiomyopathy by establishment of isogenic human
RT   iPSC lines carrying phospholamban C25T (R9C) mutation (UPITTi002-A-1)
RT   using CRISPR/Cas9 editing.";
RL   Stem Cell Res. 56:102544-102544(2021).
//