{"doi":"10.1016/j.scr.2020.101836","title":"Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations","abstract":"Sialidosis is an autosomal recessive lysosomal storage disease, belonging to the glycoproteinoses. The disease is caused by deficiency of the sialic acid-cleaving enzyme, sialidase 1 or neuraminidase 1 (NEU1). Patients with sialidosis are classified based on the age of onset and severity of the clinical symptoms into type I (normomorphic) and type II (dysmorphic). Patient-derived skin fibroblasts from both disease types were reprogrammed using the CytoTune™-iPS 2.0 Sendai Reprogramming Kit. iPSCs were characterized for pluripotency, three germ-layer differentiation, normal karyotype and absence of viral components. These cell lines represent a valuable resource to model sialidosis and to screen for therapeutics.","journal":"Stem Cell Research","year":2020,"id":111729,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":4,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9462,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":371339,"name":"Ida Annunziata","orcid":"0000-0002-1615-3728","position":1,"is_corresponding":false},{"id":530062,"name":"Jason A. Weesner","orcid":"0000-0002-0630-1715","position":2,"is_corresponding":false},{"id":493616,"name":"Yvan Campos","orcid":"0000-0002-9820-0339","position":3,"is_corresponding":false},{"id":388057,"name":"Muneeb Salie","orcid":"0000-0002-7980-0048","position":4,"is_corresponding":false},{"id":313270,"name":"Carla O’Reilly","orcid":null,"position":5,"is_corresponding":false},{"id":371341,"name":"Alessandra d’Azzo","orcid":"0000-0003-1747-7502","position":6,"is_corresponding":false},{"id":124917,"name":"Min-Joon Han","orcid":"0000-0003-4243-2381","position":0,"is_corresponding":true}],"reference_count":6,"raw_metadata":null,"created_at":"2026-07-18T23:13:09.353152Z","pmid":"32485644","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":[]}