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Cellosaurus NCHi012-A (CVCL_C9HX)

[Text version]
Cell line name NCHi012-A
Synonyms NCH089
Accession CVCL_C9HX
Resource Identification Initiative To cite this cell line use: NCHi012-A (RRID:CVCL_C9HX)
Comments From: Nationwide Children's Hospital; Columbus; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6188; JAG1; Simple; p.Cys496Phefs*9 (c.1485_1486delCT); ClinVar=VCV000234321; Zygosity=Heterozygous (PubMed=37549562).
Disease Alagille syndrome (NCIt: C35139)
Alagille syndrome (ORDO: Orphanet_52)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=37549562; DOI=10.1016/j.scr.2023.103177
Cunningham D., Stanberry I., Ye S.-Q., Alonzo M., Zhao M.-T., Garg V., Lilly B.
Generation of iPSC line NCHi012-A from a patient with Alagille syndrome and heterozygous pathogenic variant in the JAG1 gene.
Stem Cell Res. 71:103177-103177(2023)

Cross-references
Cell line databases/resources hPSCreg; NCHi012-A
Biological sample resources BioSamples; SAMEA114066532
Encyclopedic resources Wikidata; Q123033149
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2