ID   NCHi001-A
AC   CVCL_C1NN
SY   LCL-iPSC4802
DR   BioSamples; SAMEA110474014
DR   hPSCreg; NCHi001-A
DR   Wikidata; Q114312466
RX   PubMed=36343514;
CC   From: Nationwide Children's Hospital; Columbus; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7775; NFATC1; Simple; chr18:g.7753998G>A; Zygosity=Homozygous; Note=Enhancer (PubMed=36343514).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C50462; Aortic valve stenosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36343514; DOI=10.1016/j.scr.2022.102958;
RA   Lin H., Ye S.-Q., Xu Z.-H., Penaloza J.S., Aljuhani M., Vetter T.,
RA   Zhao M.-T., McBride K.L.;
RT   "Generation and characterization of a human induced pluripotent stem
RT   cell (iPSC) line from a patient with congenital heart disease
RT   (CHD).";
RL   Stem Cell Res. 65:102958-102958(2022).
//