{"doi":"10.1016/j.scr.2023.103186","title":"Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function","abstract":"Dysfunction of visceral smooth muscle (\"visceral myopathy\") impairs bowel, bladder, and uterine function. Symptoms of this life-threatening condition include massive intestinal distension with slow transit, vomiting, feeding intolerance, growth failure, poor bladder emptying, and difficult vaginal delivery. The most common genetic cause of visceral myopathy is a heterozygous point mutation (R257C) in gamma smooth muscle actin (ACTG2). We genetically modified the WAe0009-A human embryonic stem cell line to carry the c.769C>T p.R257C/+ mutation. This cell line will facilitate studies of how the ACTG2 R257C heterozygous variant affects smooth muscle development and function.","journal":"Stem Cell Research","year":2023,"id":410655,"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":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9512,"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":314796,"name":"Sabine Schneider","orcid":"0000-0002-7534-2238","position":1,"is_corresponding":false},{"id":894207,"name":"Alyssa Gagne","orcid":"0000-0002-5636-4618","position":2,"is_corresponding":false},{"id":712123,"name":"Jean Ann Maguire","orcid":null,"position":3,"is_corresponding":false},{"id":1190564,"name":"Sierra Anderson","orcid":"0000-0002-7190-7625","position":4,"is_corresponding":false},{"id":443807,"name":"Paul Gadue","orcid":"0000-0003-4344-048X","position":5,"is_corresponding":false},{"id":44517,"name":"Robert O. Heuckeroth","orcid":"0000-0002-3282-1765","position":6,"is_corresponding":false},{"id":443806,"name":"Deborah L. French","orcid":"0000-0002-7535-1716","position":7,"is_corresponding":false},{"id":503438,"name":"Sohaib Hashmi","orcid":"0000-0002-5256-3820","position":0,"is_corresponding":true}],"reference_count":5,"raw_metadata":null,"created_at":"2026-07-19T01:21:35.071397Z","pmid":"37643495","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":[]}