46,XY sex reversed females with complete androgen insensitivity syndrome
Source: NCBI BioProject (ID PRJNA99191)

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Project name: Homo sapiens
Description: This gene set contains skin fibroblasts from either labia majora of 46,XY sex reversed females having complete androgen insensitivity syndrome due to inactivation mutations of the androgen receptor gene and from the scrotum of normal males. Both, labia majora and scrotum origin from the same embryological anlagen, the labioscrotal swellings. The phenotypic difference is due to androgen dependent virilization in males. This is not possible in 46,XY patients with complete androgen insensitivity syndrome because the androgen receptor pathway is knocked out.A cell type comparison design experiment design type compares cells of different type for example different cell lines.Cell Line: genital skin fibroblasts from different locationsmutant line: normal 46,XY male and 46,XY sex reversed female due to inactivating mutations of the androgen receptor geneKeywords: cell_type_comparison_designOverall design: Computed
Data type: Transcriptome or Gene expression
Sample scope: Multiisolate
Relevance: Medical
Organization: Klinik für Allgemeine Pädiatrie, Pädiatrische Endokrinologie und Diabetologie, Universitätsklinikum Schleswig-Holstein
Literatures
  1. PMID: 17945006
Release date: 2007-10-20
Last updated: 2007-01-18