{"doi":"10.1016/j.scr.2022.102905","title":"Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations","abstract":"Genetic studies show that BLOC1S1 modulates mitochondrial and endosome-lysosome function (Wu et al., 2021a). Furthermore, Bloc1s1 mutations are linked to leukodystrophy (Bertoli-Avella et al., 2021). The Vanderver laboratory identified additional individuals with leukodystrophy that harbored either complex heterozygous (Bloc1s1 c.206A > C and c.359G > A), or homozygous (Bloc1s1 c.185 T > C) point mutations. We generated induced pluripotential stem cell (iPSC) lines from these subjects, from parents of the complex heterozygous mutations patient, and from CRISPR isogenic (c.206A > C and c.359G > A) corrected iPSC-line. These complex heterozygous, homozygous, and isogenic-corrected Bloc1s1 lines were phenotypically normal and were capable of differentiation towards the three germ layers.","journal":"Stem Cell Research","year":2022,"id":291339,"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":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9412,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":488529,"name":"Asako Takanohashi","orcid":"0000-0003-3292-1595","position":1,"is_corresponding":false},{"id":763712,"name":"Sarah Woidill","orcid":null,"position":2,"is_corresponding":false},{"id":42424,"name":"Allen Seylani","orcid":null,"position":3,"is_corresponding":false},{"id":406925,"name":"Guy Helman","orcid":"0000-0002-4784-7423","position":4,"is_corresponding":false},{"id":406937,"name":"Patrícia Dias","orcid":"0000-0002-1158-5417","position":5,"is_corresponding":false},{"id":290372,"name":"Jeanette Beers","orcid":null,"position":6,"is_corresponding":false},{"id":460388,"name":"Yongshun Lin","orcid":null,"position":7,"is_corresponding":false},{"id":306937,"name":"Cas Simons","orcid":"0000-0003-3147-8042","position":8,"is_corresponding":false},{"id":77774,"name":"Ernst J. Wolvetang","orcid":"0000-0002-2146-6614","position":9,"is_corresponding":false},{"id":288883,"name":"Jizhong Zou","orcid":"0000-0003-1021-0549","position":10,"is_corresponding":false},{"id":274411,"name":"Adeline Vanderver","orcid":"0000-0002-6290-6751","position":11,"is_corresponding":false},{"id":329922,"name":"Michael N. Sack","orcid":"0000-0002-3411-0000","position":12,"is_corresponding":false},{"id":329918,"name":"Kaiyuan Wu","orcid":"0000-0001-7395-4524","position":0,"is_corresponding":true}],"reference_count":5,"raw_metadata":null,"created_at":"2026-07-19T00:30:38.420009Z","pmid":"36070637","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":[]}