ID   JSPHi001-A
AC   CVCL_A7JD
DR   hPSCreg; JSPHi001-A
DR   Wikidata; Q107115509
RX   PubMed=33887581;
CC   From: Division of Cardiology, The First Affiliated Hospital of Nanjing Medical University; Nanjing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Arg335Trp (c.1003C>T); ClinVar=VCV000036473; Zygosity=Heterozygous (PubMed=33887581).
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   46Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33887581; DOI=10.1016/j.scr.2021.102349;
RA   Zhang Y.-K., Zhu Y., Lin Y.-P., Liu H.-L., Chen H.-W., Ju W.-Z.,
RA   Cui C., Chen M.-L.;
RT   "Establishment of an iPSC line (JSPHi001-A) from a patient with
RT   familial dilated cardiomyopathy and atrial fibrillation caused by LMNA
RT   missense mutation (c.1003C > T).";
RL   Stem Cell Res. 53:102349-102349(2021).
//