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; 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: 19-12-24; Version: 4
//
RX   PubMed=38703666; DOI=10.1016/j.scr.2024.103429; PMCID=PMC11144073;
RA   Hatim, Omer
RA   Xu, Miao
RA   Pavlinov, Ivan
RA   Linask, Kaari Liisi
RA   Beers, Jeanette K.
RA   Zou, Ji-Zhong
RA   Liu, Cheng-Yu
RA   Rodems, Steven
RA   Baumgartel, Karsten
RA   Gilbert, Melissa A.
RA   Spinner, Nancy B.
RA   Chen, Catherine Z.
RA   Zheng, Wei
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).
//