ID   TRNDi032-A
AC   CVCL_C9LN
SY   NCATS-CL4235; HT977A
DR   BioSamples; SAMEA112354454
DR   hPSCreg; TRNDi032-A
DR   Wikidata; Q123033648
RX   PubMed=37890331;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:6188; JAG1; Simple; p.Cys682Leufs*7 (c.2044dupT); Zygosity=Heterozygous (PubMed=37890331).
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   Male
AG   9M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
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RX   PubMed=37890331; DOI=10.1016/j.scr.2023.103231; PMCID=PMC10842201;
RA   Hatim O., Pavlinov I., Xu M., Linask K.L., Beers J.K., Liu C.-Y.,
RA   Baumgartel K., Gilbert M.A., Spinner N.B., Chen C.Z., Zou J.-Z.,
RA   Zheng W.;
RT   "Generation of an Alagille syndrome (ALGS) patient-derived induced
RT   pluripotent stem cell line (TRNDi032-A) carrying a heterozygous
RT   mutation (p.Cys682Leufs*7) in the JAG1 gene.";
RL   Stem Cell Res. 73:103231-103231(2023).
//