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Cellosaurus TRNDi032-A (CVCL_C9LN)

[Text version]
Cell line name TRNDi032-A
Synonyms NCATS-CL4235; HT977A
Accession CVCL_C9LN
Resource Identification Initiative To cite this cell line use: TRNDi032-A (RRID:CVCL_C9LN)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6188; JAG1; Simple; p.Cys682Leufs*7 (c.2044dupT); Zygosity=Heterozygous (PubMed=37890331).
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 9M
Category Induced pluripotent stem cell
Publications

PubMed=37890331; DOI=10.1016/j.scr.2023.103231; PMCID=PMC10842201
Hatim O., Pavlinov I., Xu M., Linask K.L., Beers J.K., Liu C.-Y., Baumgartel K., Gilbert M.A., Spinner N.B., Chen C.Z., Zou J.-H., Zheng W.
Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene.
Stem Cell Res. 73:103231-103231(2023)

Cross-references
Cell line databases/resources hPSCreg; TRNDi032-A
Biological sample resources BioSamples; SAMEA112354454
Encyclopedic resources Wikidata; Q123033648
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4