{"doi":"10.1016/j.scr.2023.103213","title":"Characterization of an induced pluripotent stem cell line NCHi011-A from a 23-year-old female with Alagille Syndrome harboring a heterozygous JAG1 pathogenic variant","abstract":"Alagille syndrome (ALGS) is a multisystem disease with high variability in clinical features. ALGS is predominantly caused by pathogenic variants in the Notch ligand JAG1. An iPSC line, NCHi011-A, was generated from a ALGS patient with complex cardiac phenotypes consisting of pulmonic valve and branch pulmonary artery stenosis. NCHi011-A is heterozygous for a single base duplication causing a frameshift in the JAG1 gene. This iPSC line demonstrates normal cellular morphology, expression of pluripotency markers, trilineage differentiation potential, and identity to the source patient. NCHi011-A provides a resource for modeling ALGS and investigating the role of Notch signaling in the disease.","journal":"Stem Cell Research","year":2023,"id":386755,"datarank":0.10397207708399181,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.0,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9165,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":625237,"name":"David Cunningham","orcid":"0000-0001-5158-1069","position":1,"is_corresponding":false},{"id":292128,"name":"Shiqiao Ye","orcid":"0000-0003-1529-7102","position":2,"is_corresponding":false},{"id":238369,"name":"Matthew Alonzo","orcid":"0000-0002-3479-6022","position":3,"is_corresponding":false},{"id":293638,"name":"Mingtao Zhao","orcid":null,"position":4,"is_corresponding":false},{"id":292129,"name":"Vidu Garg","orcid":"0000-0002-3778-5927","position":5,"is_corresponding":false},{"id":441949,"name":"Brenda Lilly","orcid":"0000-0002-3125-7496","position":6,"is_corresponding":false},{"id":1155093,"name":"Isaac Stanberry","orcid":"0009-0008-4668-8927","position":0,"is_corresponding":true}],"reference_count":4,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T01:18:00.717763Z","pmid":"37774637","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}