ID   JSPHi003-A
AC   CVCL_C1TT
DR   hPSCreg; JSPHi003-A
DR   Wikidata; Q114311790
RX   PubMed=36095892;
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.Ser437Hisfs*2 (c.1304_1307dupGCAC); ClinVar=VCV000066803; Zygosity=Heterozygous (PubMed=36095892).
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   Female
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36095892; DOI=10.1016/j.scr.2022.102909;
RA   Lin Z.-Q., Cheng H.-Y., Zhang Y.-K., Zheng B.-Y., Zhang F., Lin Y.-P.,
RA   Zhu Y., Ju W.-Z., Cui C., Chen M.-L.;
RT   "Generation of a human induced pluripotent stem cell line (JSPHi003-A)
RT   from a patient with atrial fibrillation and ventricular tachycardia
RT   carrying LMNA frame shift mutation (c.1304_1307dup).";
RL   Stem Cell Res. 64:102909-102909(2022).
//