Cellosaurus cell line NCHi009-A (CVCL

Cross-references
Cell line name	NCHi009-A
Synonyms	NCH78
Accession	CVCL_C6RK
Resource Identification Initiative	To cite this cell line use: NCHi009-A (RRID:CVCL_C6RK)
Comments	From: Nationwide Children's Hospital; Columbus; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7881; NOTCH1; Simple; p.Gly661Ser (c.1981G>A); ClinVar=VCV000264541; Zygosity=Heterozygous (PubMed=36599283).
Disease	Aortic valve disease 1 (NCIt: C192088) Familial bicuspid aortic valve (ORDO: Orphanet_402075)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	20Y
Category	Induced pluripotent stem cell
Publications	PubMed=36599283; DOI=10.1016/j.scr.2022.103013; PMCID=PMC9904404 Adhicary S., Ye S.-Q., Lin H., Texter K.M., Garg V., Zhao M.-T. Establishment of NCHi009-A, an iPSC line from a patient with hypoplastic left heart syndrome (HLHS) carrying a heterozygous NOTCH1 mutation. Stem Cell Res. 66:103013-103013(2023)
Cell line databases/resources	hPSCreg; NCHi009-A
Biological sample resources	BioSamples; SAMEA111520029
Encyclopedic resources	Wikidata; Q117704721
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	3