ID   USFi003-A
AC   CVCL_A6XF
SY   1AB1
DR   BioSamples; SAMEA8660436
DR   hPSCreg; USFi003-A
DR   Wikidata; Q107117355
RX   PubMed=34029931;
CC   From: University of South Florida; Tampa; USA.
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Arg541Cys (c.1621C>T); ClinVar=VCV000048046; Zygosity=Heterozygous (PubMed=34029931).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84673; Dilated cardiomyopathy
DI   ORDO; Orphanet_217604; Dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34029931; DOI=10.1016/j.scr.2021.102396;
RA   Yang J.-J., Burgos Angulo M., Argenziano M.A., Bertalovitz A.C.,
RA   Beidokhti M.N., McDonald T.V.;
RT   "Generation of an iPSC cell line (USFi003-A) from a patient with
RT   dilated cardiomyopathy carrying a heterozygous mutation in LMNA
RT   (p.R541C).";
RL   Stem Cell Res. 54:102396-102396(2021).
//