ID   SCVIi073-A
AC   CVCL_C6SK
SY   SCVIi574C2
DR   BioSamples; SAMEA112228227
DR   hPSCreg; SCVIi073-A
DR   Wikidata; Q117704859
RX   PubMed=36642055;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 939; BAG3; Simple; p.Tyr233Ter (c.699C>A); ClinVar=VCV000234982; Zygosity=Homozygous (PubMed=36642055).
CC   Sequence variation: Mutation; HGNC; 939; BAG3; Simple; p.Ala262Thr (c.784G>A); ClinVar=VCV000234983; Zygosity=Heterozygous (PubMed=36642055).
CC   Sequence variation: Mutation; HGNC; 12403; TTN; Simple; p.Leu3729Thrfs*9 (c.11183dupG) (p.Leu3557Thrfs*9, c.10670dupG); ClinVar=VCV000202507; Zygosity=Heterozygous (hPSCreg=SCVIi073-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C192082; Dilated cardiomyopathy-1HH
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36642055; DOI=10.1016/j.scr.2023.103019;
RA   Zushin P.-J.H., Zhou Y., Li A., Ashley E.A., Wheeler M.T., Wu J.C.;
RT   "Generation of two human iPSC lines with exon 3 mutations in
RT   BCL2-associated athanogene 3 (BAG3) from dilated cardiomyopathy
RT   patients.";
RL   Stem Cell Res. 67:103019-103019(2023).
//