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Cellosaurus NCHi009-A (CVCL_C6RK)

[Text version]
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; 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

PubMed=36599283; DOI=10.1016/j.scr.2022.103013
Adhicary S., Ye S.-Q., Lin H., Texter K., 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 creation21-Mar-2023
Last entry update29-Jun-2023
Version number2