ID   SCVIi039-A
AC   CVCL_B5Q1
SY   302
DR   hPSCreg; SCVIi039-A
DR   Wikidata; Q112044530
RX   PubMed=34999423;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Arg133Gln (c.398G>A); ClinVar=VCV000200934; Zygosity=Heterozygous (PubMed=34999423).
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   74Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34999423; DOI=10.1016/j.scr.2022.102657;
RA   Cho S., Lee C., Lai C., Zhuge Y., Haddad F., Fowler M.B., Sallam K.,
RA   Wu J.C.;
RT   "Heterozygous LMNA mutation-carrying iPSC lines from three cardiac
RT   laminopathy patients.";
RL   Stem Cell Res. 59:102657-102657(2022).
//