ID   NCHi009-A
AC   CVCL_C6RK
SY   NCH78
DR   BioSamples; SAMEA111520029
DR   hPSCreg; NCHi009-A
DR   Wikidata; Q117704721
RX   PubMed=36599283;
CC   From: Nationwide Children's Hospital; Columbus; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7881; NOTCH1; Simple; p.Gly661Ser (c.1981G>A); ClinVar=VCV000264541; Zygosity=Heterozygous (PubMed=36599283).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C192088; Aortic valve disease 1
DI   ORDO; Orphanet_402075; Familial bicuspid aortic valve
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36599283; DOI=10.1016/j.scr.2022.103013;
RA   Adhicary S., Ye S.-Q., Lin H., Texter K., Garg V., Zhao M.-T.;
RT   "Establishment of NCHi009-A, an iPSC line from a patient with
RT   hypoplastic left heart syndrome (HLHS) carrying a heterozygous NOTCH1
RT   mutation.";
RL   Stem Cell Res. 66:103013-103013(2023).
//