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Cellosaurus TRNDi036-A (CVCL_C9LP)

[Text version]
Cell line name TRNDi036-A
Synonyms HT980A
Accession CVCL_C9LP
Resource Identification Initiative To cite this cell line use: TRNDi036-A (RRID:CVCL_C9LP)
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.Asp692_Cys693insTer (c.2078_2079delGT) (p.Cys693Ter); ClinVar=VCV000843337; Zygosity=Heterozygous (PubMed=38703666).
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 Children
Category Induced pluripotent stem cell
Publications

PubMed=38703666; DOI=10.1016/j.scr.2024.103429; PMCID=PMC11144073
Hatim O., Xu M., Pavlinov I., Linask K.L., Beers J.K., Zou J.-H., Liu C.-Y., Rodems S., Baumgartel K., Gilbert M.A., Spinner N.B., Chen C.Z., Zheng W.
Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene.
Stem Cell Res. 77:103429-103429(2024)

Cross-references
Cell line databases/resources hPSCreg; TRNDi036-A
Biological sample resources BioSamples; SAMEA114266353
Encyclopedic resources Wikidata; Q123033652
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4