ID   TRNDi036-A
AC   CVCL_C9LP
SY   HT980A
DR   BioSamples; SAMEA114266353
DR   hPSCreg; TRNDi036-A
DR   Wikidata; Q123033652
RX   PubMed=38703666;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Sequence variation: Mutation; HGNC; 6188; JAG1; Simple; p.Asp692_Cys693insTer (c.2078_2079delGT) (p.Cys693Ter); ClinVar=VCV000843337; Zygosity=Heterozygous (PubMed=38703666).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C35139; Alagille syndrome
DI   ORDO; Orphanet_52; Alagille syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Children
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-09-24; Version: 3
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RX   PubMed=38703666; DOI=10.1016/j.scr.2024.103429; PMCID=PMC11144073;
RA   Hatim O., Xu M., Pavlinov I., Linask K.L., Beers J.K., Zou J.-H.,
RA   Liu C.-Y., Rodems S., Baumgartel K., Gilbert M.A., Spinner N.B.,
RA   Chen C.Z., Zheng W.;
RT   "Generation of an Alagille syndrome (ALGS) patient-derived induced
RT   pluripotent stem cell line (TRNDi036-A) carrying a heterozygous
RT   mutation (p.Cys693*) in the JAG1 gene.";
RL   Stem Cell Res. 77:103429-103429(2024).
//