Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development.

Abhinav PariveshEmmanuèle DélotAlejandra ReyesJanelle RyanSurajit BhattacharyaVincent HarleyEric Vilain

Published in: Biology of sex differences (2024)

The trans-differentiation method was applied to a variety of commercially available 46, XY fibroblasts derived from patients with DSD and to a 46, XX cell line. The DSD SLCs displayed altered levels of trans-differentiation in comparison to normal 46, XY-derived SLCs, thus showcasing the robustness of this new trans-differentiation model. Future applications could include using the SLCs to improve definitive diagnosis of DSD in patients with variants of unknown significance.

Keyphrases

induced apoptosis
extracellular matrix
cell cycle arrest
copy number
gene expression
oxidative stress
cell death
radiation therapy