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Cellosaurus NCHi011-A (CVCL_C9HY)

[Text version]
Cell line name NCHi011-A
Synonyms NCH092
Accession CVCL_C9HY
Resource Identification Initiative To cite this cell line use: NCHi011-A (RRID:CVCL_C9HY)
Comments From: Nationwide Children's Hospital; Columbus; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6188; JAG1; Simple; p.Ser131Valfs*13 (c.390dupG); ClinVar=VCV000289187; Zygosity=Heterozygous (PubMed=37774637).
Disease Alagille syndrome (NCIt: C35139)
Alagille syndrome (ORDO: Orphanet_52)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 23Y
Category Induced pluripotent stem cell
Publications

PubMed=37774637; DOI=10.1016/j.scr.2023.103213; PMCID=PMC10807224
Stanberry I., Cunningham D., Ye S.-Q., Alonzo M., Zhao M.-T., Garg V., Lilly B.
Characterization of an induced pluripotent stem cell line NCHi011-A from a 23-year-old female with Alagille syndrome harboring a heterozygous JAG1 pathogenic variant.
Stem Cell Res. 72:103213-103213(2023)

Cross-references
Cell line databases/resources hPSCreg; NCHi011-A
Biological sample resources BioSamples; SAMEA114071487
Encyclopedic resources Wikidata; Q123033148
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2