{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["25(1)"],"submitter":["Shi JW"],"pubmed_abstract":["This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C>G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient demonstrated feminization of external genitalia and Tanner stage 1 breast development. The surgical procedure revealed a morphologically normal epididymis and vas deferens but a dysplastic testis. Microfluidic-based single-cell RNA sequencing (scRNA-seq) analysis found that the fibroblast cells were significantly increased (approximately 46.5%), whereas the number of main epididymal epithe"],"journal":["Asian journal of andrology"],"pagination":["103-112"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9933965"],"repository":["biostudies-literature"],"pubmed_title":["Epididymis cell atlas in a patient with a sex development disorder and a novel <i>NR5A1</i> gene mutation."],"pmcid":["PMC9933965"],"pubmed_authors":["Lin HC","Qiao F","Chen YF","Jiang H","Xie GC","Tian JW","Chen H","Zhou YW","Ye M","Liu Y","Shi JW","Zhang MY","Fok KL"],"additional_accession":[]},"is_claimable":false,"name":"Epididymis cell atlas in a patient with a sex development disorder and a novel <i>NR5A1</i> gene mutation.","description":"This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C>G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient demonstrated feminization of external genitalia and Tanner stage 1 breast development. The surgical procedure revealed a morphologically normal epididymis and vas deferens but a dysplastic testis. Microfluidic-based single-cell RNA sequencing (scRNA-seq) analysis found that the fibroblast cells were significantly increased (approximately 46.5%), whereas the number of main epididymal epithe","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan-Feb","modification":"2025-08-24T03:08:28.509Z","creation":"2024-11-06T12:49:27.207Z"},"accession":"S-EPMC9933965","cross_references":{"pubmed":["35546286"],"doi":["10.4103/aja202226"]}}