ID   SCVIi020-A
AC   CVCL_B5FR
SY   SCVI-466; SCVI 466; SCVI466
DR   hPSCreg; SCVIi020-A
DR   Wikidata; Q110433205
RX   PubMed=34954454;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Arg377Cys (c.1129C>T); ClinVar=VCV000048031; Zygosity=Heterozygous (PubMed=34954454).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C165596; Dilated cardiomyopathy-1A
DI   ORDO; Orphanet_300751; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34954454; DOI=10.1016/j.scr.2021.102638;
RA   Lee C., Cho S., Lai C., Shenoy S.P., Vagelos R., Wu J.C.;
RT   "Generation of three iPSC lines from dilated cardiomyopathy patients
RT   carrying a pathogenic LMNA variant.";
RL   Stem Cell Res. 59:102638-102638(2022).
//